Mouse Mutant Resource

Exceptional mice, extraordinary insights

Mice harboring spontaneous mutations have long been a major source for animal models of human genetic disorders, but until recently the process of identifying causative mutations has been time-consuming, labor-intensive and costly. Now, high-throughput DNA sequencing technologies have revolutionized mutation detection, greatly reducing the time, effort and expense associated with disease-gene identification. We are using these technologies to study rare phenotypic deviant mice that arise spontaneously within the Laboratory's numerous large mouse colonies.

Exceptional mice, extraordinary insights

By identifying causative mutations and associated genes that underlie rare phenotypic anomalies, we are able to further annotate the mammalian genome, assigning physiological functions to genes for which no role has previously been identified. In the process we identify parallels to orthologous rare human genetic diseases, creating animal models to facilitate the investigation of disease mechanisms and possible therapies.

We characterize mice carrying spontaneous genetic mutations genetically, genomically and phenotypically prior to making them available to  researchers.  The Mouse Mutant Resource (MMR) encourages the use of these unique disease models, maintaining and distributing mutant strains and associated information to the scientific community.  

  • Mouse Mutant Resource: Available mouse models

    New mutant mice are made available to the scientific community once they have been characterized and described in journal publications. Over 700 established mutant stocks are maintained in the Mouse Mutant Resource, and 90-100 new mutations are at various stages of characterization.

  • Mutation characterization and protocols

    Mice with newly identified spontaneous mutations undergo genetic, genomic and phenotypic characterization to evaluate and develop their value as resources for ongoing biomedical research. Each new mutant strain is characterized genetically, genomically and phenotypically.

  • Database of exome sequencing data

    We use exome sequencing to characterize spontaneous mutation mice, and were the first to publish this approach for the discovery of mutations in the mouse genome.  To maximize the usefulness of our sequencing data, we developed an analysis pipeline and genetic variant database. The database currently houses over 4 million single nucleotide variants and small insertions or deletions, and provides a strain variation dataset of unprecedented breadth. 

  • New strain highlight

    Recently characterized mutants provide promising disease models for autoimmune and dermatologic conditions, as well as dental and skin diseases.

Faculty & Staff

David E. Bergstrom, Ph.D. Research Scientist

David E. Bergstrom, Ph.D.

Laura Reinholdt, Ph.D. Associate Professor

Laura Reinholdt, Ph.D.

Publications

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG. Genome Res. 2015 Jul;25(7):948-57. doi: 10.1101/gr.186882.114. Epub 2015 Apr 27.

Dsprul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome. Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP. Exp Mol Pathol. 2015 Apr;98(2):164-72. doi: 10.1016/j.yexmp.2015.01.015. Epub 2015 Feb 7.

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia. Maddox DM, Collin GB, Ikeda A, Pratt CH, Ikeda S, Johnson BA, Hurd RE, Shopland LS, Naggert JK, Chang B, Krebs MP, Nishina PM. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3776-87. doi: 10.1167/iovs.14-16047.

Full list of publications

How to cite this resource

The Mouse Mutant Resource is supported by grants from the National Institutes of Health, Department of Health and Human Services; institutional funds of The Jackson Laboratory; and fees from the distribution of mice.  The MMR is currently supported by the Office of Research Infrastructure Programs/Office of the Director, at The National Institutes of Health (NIH). 

In publications using mice from our resource, please cite support from the Mouse Mutant Resource and NIH grant number OD010972.

To cite information published on this website:

Mouse Mutant Resource Website, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (http://mousemutant.jax.org/). [Type in date (month, yr) when you retrieved data cited].

For example: Information contained in these pages comes partially through research from the Mouse Mutant Resource Website, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (http://mousemutant.jax.org/). [Date you accessed the site]