Page 71 - Mouse Molecular Genetics

Full Abstracts
Program number is above title. Author in bold is the presenter.
cellular, chromosomal assignment and SNP polymorphisms. To facilitate data visualization a multivariate statistical method
Correspondence Analysis) was applied.
Summary of results:
We identified in the PLN of young NOD mice, 71 differentially
expressed transcripts coding for secreted proteins and regulated at the early preinflammatory stages of T1D. By using a
multivariate statistical method we identified a clear-cut segregation of the individual samples according to the subphenotype used
and the gene expression patterns, rendering these 71 transcripts a candidate-set of predictive biomarkers for T1D. As the majority
of these genes have human orthologs, they represent potential candidate biomarkers for the human disease. Three chromosomes
contain 47% of the identified genes delineating possibly expression variants hotspots influencing the genetics/epigenetics of T1D.
Two chromosomal regions, showed high density of SNPs polymorphisms between the NOD and other non diabetic laboratory
strains. Several Idd and human IDDM, diabetes susceptibility loci, lay nearby or within the chromosomal regions of the identified
transcripts rendering these genes potential candidates for the corresponding genetic loci.
i) Subphenotypic
evaluation (E-IAA in our study) of complex genetic disorders allows identifying genes otherwise not detected by classical genetic
analysis studies. ii) 71 potential early biomarkers for T1D are identified and constitute candidate genes for genetic loci in the
NOD mouse and in human through their orthologs. iii) A genetical genomics image of these transcripts together with their
functional annotations generate new hypothesis that can be experimentally tested via the identified genes.
The Jackson Laboratory Repository: Resources for Addressing Human Disease. Darcy Pomerleau
S Rockwood, C Lutz,
M Sasner, LR Donahue, The Repository Team. Genetic Resource Science, The Jackson Laboratory, Bar Harbor, ME.
The mouse continues to be the most utilitarian of model organisms, evidenced by the ever increasing number and variety of
models generated. To ensure ready access of these research tools to the scientific community The Jackson Laboratory Repository
serves as a centralized facility for the purpose of developing, rederiving, cryopreserving and distributing mouse models to the
international biomedical research community. Many new strains are added each year to the thousands of unique mouse strains
that comprise one of the largest collections of characterized mouse strains available. Models newly imported and/or developed
for distribution have applications across multiple therapeutic areas; some selected sets include Spinal Muscular Atrophy (SMA),
Parkinsons disease and Autism spectrum disorders. Numerous mutant lines offer a means for researchers to examine the
regulation of immunologically-related pathways and their potential for developing translational approaches to human disease
therapies. An essential infrastructural component to the Repository is a robust quality control program that surveys allele identity,
genetic background and exclusion of unwanted alleles. A new initiative at the Jackson Laboratory is the Rare and Orphan Disease
Center. The Center focuses on partnering with scientists, foundations, and other experts around the world to enable the
development, standardization, optimization, and rapid distribution of preclinical models for drug discovery. Being able to offer
the resources and expertise to enable the design, construction and management of preclinical mouse models of disease, in
combination with a global delivery system, expertise in technical transfer issues and genetic quality control, uniquely positions
the Center to rapidly put new tools into the hands of scientists for the purpose of accelerating drug discovery. An on-line resource
allows researchers to retrieve information related to strains in the Repository. Donating a strain to the Repository
fulfills the requirements for sharing of mice required by NIHs policy for the sharing of research reagents. Researchers wishing to
have strains considered for inclusion in the Repository may use the submission form available at:
The Jackson Laboratory Repository is supported by the NIH, The Howard Hughes Medical
Institute, Michael J. Fox Foundation for Parkinsons Research and other private charitable foundations.
Infrafrontier - the European infrastructure for the phenotyping, archiving and distribution of model mammalian
genomes. Michael Raess
Martin Hrabé de Angelis, the Infrafrontier Consortium. Inst Experimental Genetics, Helmholtz
Zentrum Muenchen, Neuherberg, Germany.
Medically related life sciences use mouse models to understand the functional basis of human disease. However, the existing
capacities for the systemic phenotyping, archiving and distribution of mouse models in Europe do not match the increasing
demand by the community. Moreover, sustainable funding solutions are not always in place. These issues are being addressed
which is part of the Roadmap of the European Strategy Forum on Research Infrastructures (ESFRI) since the
year 2006:
Capacity building:
Infrafrontier provides access to scientific platforms and services for individual research projects (bottom-
up) and for large-scale top-down programs such as the International Mouse Phenotyping Consortium (IMPC);
Securing sustainable funding
for the mouse productions centres, mouse repositories and primary phenotyping centres that
contribute to the Infrafrontier Research Infrastructure, both through national funding and the funding instruments for research
infrastructures within Horizon 2020;
Providing a single point-of entry
for the users of the scientific platforms and services offered by the Infrafrontier Research
Infrastructure; underpinned by common quality standards and operation procedures, pan-European capacity and risk
management, and user training.
The Infrafrontier consortium consists of 29 partners, representing the leading mouse clinics, and the major archiving and
distribution nodes organized in the European Mouse Mutant Archive (
as well as the related ministries and major
funding bodies from 12 European countries and Canada. The Infrafrontier Research Infrastructure will shape the European