Development of the third generation of the Mouse Universal Genotyping Array (GigaMUGA)

January 2016

Researchers at North Carolina University have developed the third generation of the Mouse Universal Genotyping Array (GigaMUGA), an array developed in the Illumina platform and which is optimised for the identification of strains and substrains of laboratory mice. Further information at: GigaMUGA paper: .

Great success of the sixth edition of CIBERER courses for phenotyping animal models

November 2015

The course, held at the installations of the Facultad de Veterinaria y Hospital Clínico Veterinario of the UCM last 16th to 20th November, gave those attending theoretical and practical training on the characterisation of genetically modified animals, especially by means of minimally invasive techniques. It was given by specialists in phenotyping the hearing, visual, respiratory, cardiovascular, neuromuscular, metabolic and renal systems, amongst others, some of them members of the SEFALer services.

Coordinated by doctors Silvia Murillo-Cuesta and Rafael Cediel, of the U761, the event was held with the cooperation of the Universidad Complutense and the Colegio Oficial de Veterinarios de Madrid and was a great success as regards its participation, all the places offered being taken, many of them by pre-and postdoctoral researchers from the CIBERER.

The mouseAGE website is now live at

Octubre 2015

This website will be updated frequently with news and information related to the mouseAGE network. In addition, it includes a search function that may be used to locate researchers with particular expertise and research area within the network.


Map of animal Transgenesis in Spain

March 2015

Dr Lluis Montoliu, from the F6-F7 unit of SEFALer, has updated the "Map of Animal Transgenesis in Spain ", in cooperation with unit F1. This revised version includes specific information on the Spanish groups/units/services which carry out transgenesis work on different species, as well as cryopreservation and phenotyping of animal models. It is open to being joined by new groups, by downloading the form and sending this to the address given.

You can visit this at:

The COSCE draws up a document in defence of using animals in scientific research

February 2015

The COSCE has drawn up a document defending the use of animals in scientific research. You can consult this in the Links of Interest section of our web page or download it  here.

The Histology Service of the CNB-CSIC has recently joined the SEFALEr platform

February 2015

The histology service of the CNB-CSIC, directed by Dr Lluis Montoliú (U756) has joined the SEFALer phenotyping platform as unit F7. This service specialises in preparing biological samples for microscopic observation using methods including paraffin, resin and frozen tissue.

Innovations in The Jackson Laboratory databases

January 2015

The Jackson Laboratory databases are incorporating certain new aspects in 2015 which prove extremely useful for all the researchers working with animal models:

  • Weekly updating of the data in the Mouse Genome Informatics web page from the International Mouse Phenotype Consortium (IMPC), Wellcome Trust Sanger Institute (WTSI) and Europhenome (EuPh), as well as the latest scientific publications.
  • Further information on transgenes and knock-in alleles.
  • Enhancement of the Human-Mouse: Disease Connection page, enabling multiple searches and the use of connectors (ANDs, ORs and AND NOTs).

Further information at

SEFALer cooperates in the preparation of the "Map of animal phenotyping in Spain "

December 2014

SEFALer units F1 and F6 are cooperating to draw up a map giving the essential information on the groups, laboratories or services doing any work in the characterisation or phenotyping of animal models in this country. The map will complement the already existing one entitled "Map of animal transgenesis in Spain" (, drawn up by Dr Lluis Montoliu (SEFALer unit F6) which includes services for generating genetically modified animals, especially murine models.
This new map will provide information of great use for the entire scientific community, especially for those who perform animal experiments.

Very good attendance at the Course on Introduction to Research on Genetically Modified Animals

November 2014

The headquarters of the Colegio Oficial de Veterinarios de Madrid (COLVEMA) was the venue for the third edition of the course on Introduction to Research on Genetically Modified Animals , arranged by the CIBERER in cooperation with COLVEMA last 6th and 7th November. The course was given by researchers from SEFALer units F1, F2 and F3 (CIBERER units  761, 740 and 716), respectively led by doctors Isabel Varela-Nieto, Eduardo Salido and Cristina Fillat. The course, meant for persons starting out in research with animal models, was attended by extremely large numbers and valued very highly by those attending.

New edition of the book "Manipulating the mouse embryo. A laboratory manual" (2014), a reference in the field.

July 2014

The fourth edition of the reference manual in the field of transgenic mice has just come out. This is commonly known as "the Bible", and is published by Cold Spring Harbor Laboratory Press, entitled "Manipulating the mouse embryo. A laboratory manual" (2014), edited by Richard Behringer, Marina Gertsenstein, Kristina Vintersten Nagy and Andras Nagy. If you are interested in this book you can read this review that Lluis Montoliu, from SEFALer F6 , has prepared for the ISTT blog.

CIBERER training course "Research into Genetically modified animals".

July 2014

CIBERER training course "Research into Genetically Modified Animals". 5th edition of the phenotyping training courses arranged by CIBERER in cooperation with the UCM and COLVEMA, which will be held on 6th and 7th November 2014 at the Colegio Oficial de Veterinarios de Madrid. The programme and instructions for enrolment will come out in the second fortnight of September 2014.

Updating of the Mouse Developmental Anatomy database of Jackson Laboratories.

March 2014

The newly developed Mouse Developmental Anatomy Browser ( ) allows users to navigate through this ontology to locate specific anatomical structures and to obtain associated expression data. This browser contains three interactive sections: search, term detail, and tree view. Searching is aided by an autcomplete list. The tree view means terms can be viewed in context, by providing the ability to expand and collapse branches, as well as providing links to associated expression data. The term detail provides information about each term as well as allowing users to toggle between stage-specific and stage-independent instances of terms. Expression data summaries are returned by the GXD queries and accessed by expression result links on detail pages through MGI. These data summaries now have filters to allow users to further limit their results to specific anatomical systems, assay types, Theiler stages, detection of expression (yes or no), and to wild-type or mutant specimens.

Treatment with PTHrP-derived peptides partially corrects the skeletal alterations of the KNOCK-OUT mouse for IGF1

January 2014

CIBERER unit U761, led by doctor Isabel Varela-Nieto and SEFALer unit F1, in cooperation with the Laboratorio de Metabolismo Mineral y Óseo de la Fundación Jiménez Díaz, directed by Dr Pedro Esbrit, have produced a work with an in-depth examination of the alterations of bone growth and metabolism of the knock-out mouse for gene Igf1, a model of RD "Delayed growth through deficit in the insulin-like growth factor type 1 (ORPHA73272). The skeletal anomalies observed  in the null mouse for this gene on the tissue, cell, molecule and gene expression level are partly offset by means of treatment with two peptides derived from N and C terminals of the PTH-related protein, PTHrP, which produces osteogenic action even in the absence of IGF-I.

The results of this work were published in Plos One journal.

Treatment with N- and C-terminal Peptides of Parathyroid Hormone-Related Protein Partly Compensate the Skeletal Abnormalities in IGF-I Deficient Mice. Rodiguez-de la Rosa L, López-Herradon A, Portal-Núñez S, Murillo-Cuesta S, Lozano D, Cediel R, Varela-Nieto I, Esbrit P. Plos One 2014 (in press).

The Jax Colony Management System, JCMS, team, has just released a new web version of the JCMS Web software

October 2013

The JCMS Web application runs on any platform and is easy to install and get started with. And best of all, it is FREE. You can download JCMS Web from our web site at

We have some video tutorials on line at

We have a demo version on line at

The JCMS Web application is compatible with the JCMS Access application, so if you are already using JCMS, you can easily upgrade and continue to use the Access application and the web application.

For more information, visit the JCMS web site. If you have questions, sign up for user support on our community forum

Please consider taking our very short user survey   (Help us plan what is next!)

The Mouse Genome Informatics Database incorporates data on comparative genomics with chicken, zebrafish and rhesus monkeys

May 2013

MGI is pleased to announce a new implementation of comparative genome data. We previously used a one-to-one orthology relationship between a mouse gene and that of another mammalian species. MGI now uses homology class data from HomoloGene and supports a "many-to-many" relationship between mouse genes and their vertebrate homologs. Chicken, zebrafish and rhesus macaque homologs are now included in this release as well as human, chimpanzee, dog, cattle and rat.

Vertebrate Homology Class pages include genetic location and links to EntrezGene, Comparative GO Graphs, sequences and HomoloGene multiple sequence alignments. For an example, see this complement component Vertebrate Homology Class page:

Redesigned MGI Human Disease and Mouse Model Detail pages support the new homology class data and link to vertebrate homology class pages and mouse model phenotype data. For an example, see this Systemic Lupus Erythematosus Human Disease and Mouse Model Detail page:

With this release, references now link to curated Gene Ontology (GO) functional annotations, in addition to genome features, phenotypic alleles and expression literature curation. For an example, see this reference summary page:

The Mouse Phenome Database is incorporating new data sets for mouse phenotyping

April 2013

New data sets and updates in the Mouse Phenome Database (MPD).

Visit and view the What's New page.

MPD strain survey phenotype data have been coded to these ongologies: Vertebrate Trait (VT), Mammalian Phenotype (MP), and Adult Mouse Gross Anatomy (MA).

Bennett BJ, Farber CR, Kang HM, Orozco L, Eskin E, Lusis AJ - Whole liver gene expression in males of 99 mouse strains from the HMDP

Bennett BJ, Farber CR, Orozco L, Eskin E, Lusis AJ - Plasma lipids and body composition in males of 99 strains of mice in the Hybrid Mouse Diversity Panel (HMDP).

Collins FS - Hematological parameters in 8 inbred progenitors and 130+ emerging lines (pre-CC) of the Collaborative Cross.

DiPetrillo K - Urine albumin and creatinine in males of 34 inbred strains of mice.

DiPetrillo K - Urine albumin and creatinine in males of 7 inbred founder strains and 150+ emerging lines (pre-CC) of the Collaborative Cross.

Massett MP - Exercise capacity in 34 inbred strains of mice.

Mathes WF - Energy balance traits in 8 inbred founder strains and 170+ emerging lines (pre-CC) of the Collaborative Cross.

Marchuk DA - Surgically-induced cerebral infarct volume for assessing stroke susceptibility in 16 inbred strains of mice.

Orozco L, Bennett BJ, Lusis AJ - Macrophage gene expression survey in 86 strains of the Hybrid Mouse Diversity Panel (HMDP, with control, LPS and OxPAPC treatment cohorts).

Free of charge INFRAFRONTIER-I3 mouse phenotyping service

March 2013

The EC funded INFRAFRONTIER-I3 project can offer a comprehensive phenotype analysis for 22 mouse lines free of charge for researchers in eligible European countries.

More info

Usher Syndrome Mouse Regains its Balance, Hearing

March 2013

A research team led by Louisiana and Illinois scientists use antisense oligonucleotides to restore hearing and balance deficits in the CBACa.129S6(Cg)-Ush1ctm1Bkts/J (012426) mouse, a model of human Usher syndrome, type 1c. The strategy might lead to therapies for the human disease.

The Council of Ministers approves the new Royal Decree on animal experimentation which will soon be published in the State Gazette

February 2013

Further information

AFHELO Project

November 2012

SEFALer unit F1 (ENNI Service- Neurobiological Hearing Group of the IIBM, CSIC) is taking part in this Project, financed by the European Union’s 7th Framework Programme, with the aim of completing and optimising preclinical development of molecule AF243 in the treatment and prevention of sensorineural hearing loss.

Further information

SEFALer Unit F1 takes part in the Science and Technology Week 2012

November 2012

Yet another year, SEFALer unit F1 - Service for Non-Invasive Neurofunctional Assessment of the IIBM "Alberto Sols" - is participating in the Science and Technology Week with two activities. One involves the traditional open day sessions entitled "Las Letras de la Ciencia", where secondary school pupils visit different technical services at the centre. And then, as an innovation this year, SEFALer unit F1 is organising a theoretical and practical workshop entitled "Hearing, Listening, Understanding", on hearing and hearing loss, its physiopathology, diagnosis, treatment and progress in research. Here the public attending the event will be able to handle anatomical models of the ear, set up their own audiogram or learn how hearing is evaluated in animal models. Further information and enrolment at

Great success of the 2nd Edition of the Sessions for Introduction to Research in Genetically Modified Animals

October 2012.

The 2nd Edition of the Sessions for Introduction to Research on Genetically Modified Animals (27th and 28th September 2012) was a great success as regards the number of participants attending. These sessions, arranged by the SEFALer in cooperation with the Colegio de Veterinarios de Madrid, are intended for trainee research staff in the field of biomedical research and provide essential information on mouse biology, genetics and management of colonies, generation of RGM, experimental design, legislation and bioethics and morphological and functional phenotyping, amongst others. Several SEFALer units have taken an active part in these sessions, reinforcing the training commitment of this platform for network laboratory animal phenotyping of the CIBERER.

2013 Advanced Courses and Scientific Conferences Wellcome Trust Genome Campus.

October 2012

The Jackson Laboratory patents a program to prevent the danger of genetic drift.

September 2012

Random mutations of DNA inevitably generate towards genetic drift and variation in all live organisms. Colonies of laboratory mice are highly prone to genetic alteration, such as alterations of DNA which often remains unseen on a molecular level and can be perpetuated by the processes for selecting breeders. These genetic variations may distort the interpretation and results of the research.

The Genetic Stability programme patented by The Jackson Laboratory (JAX™ GSP*) enables halting the genetic drift of mice breeding colonies through the regular refreshment of primary colonies with cryopreserved embryos. The JAX™ GSP programme is used by Charles River in Europe for local production of many strains of JAX™ mice. To find out more about the JAX™ GSP programme and prevent the terrible effects of undetected genetic drift, consult web page:

JAX™ GSP enables researchers to obtain consistent data reproducible over time.

*JAX™ GSP is covered by patent numbers2010 (US patent 7,592,501) and 2012 (US patent 8,110,721).

JAX™ and J™ are trademarks of The Jackson Laboratory registered in the United States. All rights reserved.

The Collaborative Cross.

July 2012

* The Collaborative Cross. The Collaborative Cross (CC) is a large panel of new inbred mouse strains that are currently being developed through a community effort. The CC was designed to address some of the perceived shortcoming of available mouse strain resources, including small numbers of strains, limited genetic diversity, and a complex history that results in unknown confounding relationships among common inbred strains. The CC strains are derived from an eight way cross using a set of founder strains that include three wild-derived strains. The wild strains contribute 75% of the genetic diversity of the CC. Without relevant genetic diversity, forward genetic approaches cannot make discoveries. The Collaborative Cross captures a substantial proportion of the genetic diversity available in laboratory mouse strains, estimated to be roughly twice the number of common SNPs in the human population (Yang et al., 2007). This diversity is approximately 4 times that in the widely used “classical” inbred strains. The Collaborative Cross will provide a common reference panel specifically designed for the integrative analysis of complex systems. It will be a genetically defined panel and, as all the strains are fully reproducable, genotyping need only be done once.
Más información en Churchill GA et al. The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet. 2004 Nov;36(11):1133-7.

* Diseña tu propio experimento. Online free interactive short course on experimental design at This site provides an interactive short course on experimental design for research scientists working with laboratory animals. The aim is to reduce the number of animals which are used, improve the quality of the science and save time, money and other scientific resources.

The Gene Expression Database (GXD), Mouse Genome Informatics is updated with results of in situ hybridization for 3000 new genes.

July 2012

The Gene Expression Database (GXD) is pleased to announce that additional RNA in situ hybridization data from the GenePaint database are now available at accession number J:122989. The GenePaint data set in MGI now includes over 289,300 RNA in situ hybridization results at E14.5 for 2,958 genes, and 24,984 images.

Some useful links for querying subsets of data in GXD and MGI are:
Gene Expression Data Query Form:
Genes and Markers Query Form:

If you are interested in submitting your data to GXD, please see our guidelines for submitting expression data to the Gene Expression Database ( or contact for further information.

Newly accepted strains from May 2012

June 2012

The Repository's newest additions: 24 strains have recently been accepted and will be available through the MMRRC. If you register interest, we will notify you when the strain is available; you will then have the opportunity to place an order. The average wait time for a newly accepted strain to become available for
distribution is seven months from time MMRRC receives it from the donor.

To register interest, find the MMRRC product in the catalog listing, then click on the star in the left hand column.

Click here to view these newly accepted strains in the MMRRC catalog

MMRRC:036649-UCD, B6.129P2-Rdh9tm1Jln/Mmucd
Research applications include: Endocrine Deficiency
MMRRC:036656-JAX, 129S6.JE-f/MdfMmjax
Research applications include: Metabolism, Cell Biology, Hematology, Developmental Biology
MMRRC:036658-UCD, STOCKTg(Pygb-tdTomato)TN30Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036659-UCD, STOCK Tg(Cartpt-cre)RY16Gsat/Mmucd
Research applications include: Research Tools, Cell Biology, Neurobiology, Developmental Biology
MMRRC:036660-UCD, STOCK Tg(Efr3a-cre)NO108Gsat/Mmucd

Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036661-UCD, STOCK Tg(Gck-cre)TG7Gsat/Mmucd
Research applications include: Research Tools, Cell Biology, Neurobiology, Developmental Biology
MMRRC:036662-UCD, STOCK Tg(Gfap-cre)PK90Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036663-UCD, STOCK Tg(Gsc2-cre)RD32Gsat/Mmucd
Research applications include: Research Tools, Cell Biology, Neurobiology, Developmental Biology
MMRRC:036664-UCD, STOCK Tg(Nelf-cre)NR133Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036665-UCD, STOCK Tg(Prss12-cre)SP41Gsat/Mmucd
Research applications include: Research Tools, Cell Biology, Neurobiology, Developmental Biology
MMRRC:036666-UCD, STOCK Tg(Prss12-cre)SP43Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036667-UCD, STOCK Tg(Rxfp3-cre)RS38Gsat/Mmucd
Research applications include: Developmental Biology, Research Tools, Cell Biology, Neurobiology
MMRRC:036668-UCD, STOCK Tg(Six6-cre)TD40Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036669-UCD, STOCK Tg(Slc6a3-cre)SG62Gsat/Mmucd
Research applications include: Developmental Biology, Research Tools, Cell Biology, Neurobiology
MMRRC:036670-UCD, STOCK Tg(Tlx3-cre)PL58Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036671-UCD, STOCK Tg(Trpv1-cre)SK30Gsat/Mmucd
Research applications include: Developmental Biology, Research Tools, Cell Biology, Neurobiology
MMRRC:036672-UCD, STOCK Tg(Vsx2-cre)TC9Gsat/Mmucd
Research applications include: Neurobiology, Developmental Biology, Research Tools, Cell Biology
MMRRC:036674-MU, STOCK Foxd3tm3Lby/Mmmh
Research applications include: Cardiovascular, Dermatology, Cancer, Diabetes/Obesity, Cell Biology, Developmental Biology
MMRRC:036677-UCD, STOCK Tg(Cmtm5-cre)GM106Gsat/Mmucd
Research applications include: Cell Biology, Neurobiology, Developmental Biology, Research Tools
MMRRC:036678-UCD, STOCK Tg(Emp1-cre)NP267Gsat/Mmucd
Research applications include: Developmental Biology, Research Tools, Cell Biology, Neurobiology
MMRRC:036679-UCD, STOCK Tg(Htr2a-cre)KM208Gsat/Mmucd
Research applications include: Cell Biology, Neurobiology, Developmental Biology, Research Tools
MMRRC:036680-UCD, STOCK Tg(Htr3a-cre)NO152Gsat/Mmucd
Research applications include: Developmental Biology, Research Tools, Cell Biology, Neurobiology
MMRRC:036681-UCD, STOCK Tg(Klk8-cre)NP157Gsat/Mmucd
Research applications include: Cell Biology, Neurobiology, Developmental Biology, Research Tools
MMRRC:036682-UCD, STOCK Tg(Prokr2-cre)MG17Gsat/Mmucd
Research applications include: Developmental Biology, Research Tools, Cell Biology, Neurobiology

Donate your Strain: The mouse models you have created are a valuable resource. Please consider submitting your strain to make it available for distribution to the scientific community.

We strongly encourage donating modified MMRRC strains and/or mice made from MMRRC ES cells. Providing a published paper, in-press manuscript, or access to your phenotype data, will guarantee acceptance and archiving of your strain with the MMRRC.

The new database of the International Mouse Strain Resource (IMSR) is now accessible online

May 2012

The IMSR staff is very excited to announce the IMSR ( ) 3.0 release. The web application for this new version has been written from the ground up and offers many new features, including greatly improved performance. The interface has also been redesigned to offer a more Web 2.0 user experience. Improvements to the interface include:

*Paginated results
*Sortable results
*Ability to filter results
*Ability to export reports in Tab-Delimited and Excel formats
*Ability to offer Order links to your stocks

The International Mouse Strain Resource (IMSR) is a searchable online database of mouse strains and stocks available worldwide, including inbred, mutant, and genetically engineered mice. The goal of the IMSR is to assist the international scientific community in locating and obtaining mouse resources.

Researchers can search the IMSR for available strains by strain type (such as inbred, mutant stock, recombinant inbred), strain state (live mice, cryopreserved embryos, sperm, or ES cell lines), mutations carried by a strain and repository. Search results provide links to information on specific strains and alleles and links to the repository site for inquiries and order placement. Searches for specific alleles and genes can also be automatically performed from Mouse Genome Informatics (MGI) Allele Detail pages.

The IMSR currently contains data on 22,960 strains and 209,406 ES cell lines from 21 repositories, including JAX® Mice (JAX), the Mutant Mouse Regional Resource Centers (MMRRC), RIKEN BRC (RBRC), Taconic (TAC), European Mouse Mutant Archive (EMMA), Canadian Mouse Mutant Repository (CMMR), Texas A&M Institute for Genomic Medicine (TIGM) and the KOMP Repository (KOMP). We encourage institutions and individuals who hold mice or cryopreserved embryos/gametes/ES cell lines for distribution to participate by listing their stocks in the IMSR.

Please send questions and comments to MGI User Support,

Second Edition of the "Introduction to Research on Genetically Modified Animals " course

April 2012

After the success of the first edition in 2010, SEFALer and the Colegio Oficial de Veterinarios de Madrid have organised these sessions for training on research with animal models. The course is mainly intended for doctorate students, technical staff and in general all those who are starting up in the field of biomedical research. The event will be held at the headquarters of the COLVEMA in Madrid, on 27th and 28th September 2012. The definitive programme and enrolment procedure will soon be available through the CIBERER web page.

Two European neuroscientists awarded the € 1 million BRAIN PRIZE 2012 for their pioneering work on the genetics of hearing and deafness

March 2012

Copenhagen, Denmark 12th March, 2012: The Grete Lundbeck European Brain Research Foundation announced today that The Brain Prize 2012 is jointly awarded to Christine Petit and Karen Steel:

'for their unique, world-leading contributions to our understanding of the genetic regulation of the development and functioning of the ear, and for elucidating the causes of many of the hundreds of inherited forms of deafness'.

More info

Science in times of crisis

February 2012

Nature Medicine publishers February 2012: "Science in times of crisis". An interesting article in which the current situation of R +D in Spain is explained.

Link to the article

Link to the article in pdf format

New SEFALer F4 unit

January 2012

CIBERER Unit U734, headed by Dr Consuelo González Manchón (, has joined SEFALer as unit F4. This unit specialises in haematological and coagulation system phenotyping in laboratory animals and offers CIBERER researchers its extensive experience in both carrying out phenotyping tests and providing consultancy and information in this field. For further information, consult the section on Structure and Activities.

New tests for characterisation of nerve conduction

December 2011

SEFALer unit F1 has prepared two new tests for characterising peripheral and central (spinal) nerve conduction. Tests on nerve conduction and somatosensory evoked  potentials (SEPs) are used for the diagnosis and evaluation of neurological and neuromuscular pathologies of different origins, including neurotoxicity, metabolic alterations, inflammation or genetic mutations. These electrophysiological tests complement other neuromotor phenotyping tests, such as the rotarod.

CIBERER sessions for training in phenotyping animal models

November 2011

There was great participation at the CIBERER SESSIONS FOR TRAINING IN PHENOTYPING ANIMAL MODELS,  held from 19th to 21st October 2011, at the Facultad de Veterinaria-Hospital Clínico Veterinario of the Universidad Complutense de Madrid.

These sessions, arranged by the CIBERER with the cooperation of the Universidad Complutense de Madrid and the Colegio Oficial de Veterinarios de Madrid, form part of the continuous training provided by the SEFALer platform for CIBERER researchers, and are the continuation of the cycle on phenotyping of animal models started in 2010.

Almost forty people from different CIBERER groups as well as from other research centres have attended these theoretical and practical sessions at which different specialists in the field covered the importance of complete and systematic phenotyping of mutant mice, models of human diseases. The practical sessions included demonstrations of anaesthetic techniques, necropsy and taking samples, histopathological analyses and specialised phenotyping of the neuromuscular, hearing and behavioural functions.

Mouse mutant re-sequencing project

November 2011

The Mouse Mutant Re-sequencing project at the Broad Institute is an NHGRI-funded effort with the goal of identifying mouse mutations using high-throughput sequencing technology and to expedite the recovery of biological information from existing collections of genetically mapped ethylnitrosurea-(ENU) and spontaneous mutants. There are hundreds of well-characterized mouse mutant models, with defects in processes such as neurological function, behavior, and reproduction as well as cancer models. As many of these mutants are models for human disease, associating their phenotype to a causal genetic mutation will directly aid the understanding of the genetic mechanisms underlying human health and disease. This re-sequencing effort is managed by the Vertebrate Biology Group at the Broad Institute under direction of scientific director Kerstin Lindblad-Toh and group leader Federica Di Palma.

Mutation discovery is carried out via high-throughput sequencing of the candidate regions; sequence data will be analyzed through a customized computational pipeline to identify variants in both the mutant and associated background strain. There are two strategies currently available for the sequencing: whole-exome sequencing using a mouse array comprising the full coding and splice-junction sequence of the mouse genome (mm9) gathered from the Mouse Genome Informatics’ unified gene list; alternately, targeted sequencing of the appropriate genomic locus using a pooling strategy to increase efficiency. The appropriate sequencing strategy is based on the particular mouse mutant model and will be determined by the Broad Institute accordingly.

Data will be analyzed using an internal computational pipeline based heavily on the Genome Analysis Toolkit (McKenna et al., 2010) for identification of SNPs and small insertions and deletions. Where appropriate, copy-number variants and structural rearrangements will also be identified. When the sequencing and analysis is completed, all sequencing data, lists of candidate mutations, and extensive quality-control data will be made available to the proposing investigators.

We are happy to report that the first round of mutants to be analyzed by this program are in the sequencing queue, and we are now soliciting applications for the second round. Details regarding this program are reprinted below.

Investigators wishing to have a mutant sequenced should review the requirement criteria and fill out the application form by clicking on the following link:

Applications should be sent via the online submission to the Coordinating Center for review. Enquiries should be made to the Coordinating Center at:

Members of the Coordinating Center
David Beier, M.D. Ph.D., Harvard Medical School
Jennifer Moran, Ph.D., Broad Institute
John Schimenti, Ph.D., Cornell University
Miriam Meisler, Ph.D., University of Michigan
Federica Di Palma, Ph.D., Broad Institute

CIBERNED Behaviour Unit got under way

Read more…

The Service for Non-Invasive Neurofunctional Assessment (SEFALer Unit F1) has made a presentation video for Diario Médico

You can see the video here…