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Strain Detail Sheet

Strain Name:
C57BL/6J-Jak3m3Btlr/Mmmh
Stock Number:
038224--TBD-
Citation ID:
RRID:MMRRC_038224--TBD-
Other Names:
thistle
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Jak3m3Btlr
Name: Janus kinase 3; mutation 3, Bruce Beutler
Synonyms: thistle
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 8
Alteration at locus: Chemically Induced
Jak3
Name: Janus kinase 3
Type: Gene
Species: Mouse
Chromosome: 8
Alteration at locus: Chemically Induced
NCBI: 16453
HGNC: HGNC:6193
Homologene: 181

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
ENU-induced A to T transversion at base pair 71,685,383 (v38) on chromosome 8, or base pair 9,001 in the GenBank genomic region NC_000074 for the Jak3 gene. The mutation is located within the acceptor splice site of intron 18 (in both Jak3 protein-coding transcripts on Ensembl; both transcripts encode the same protein), two nucleotides from exon 20. The effect of the mutation at the mRNA and protein level is unknown. One possibility is that aberrant splicing would cause skipping of the 190-base pair exon 19 (out of 25 total exons) and a frame-shift that would result in coding of 7 aberrant amino acids followed by a premature stop codon in exon 20.

Strain Description

Phenotype

Homozygous: Mice exhibited a decrease in the B:T cell ratio caused by a reduced frequency of T cells coupled with a greater diminution of B cells, B1 cells, IgM+ B cells, and IgD+ B cells, all in the peripheral blood. Some mice also exhibited an increase in the CD4+ to CD8+ T cell ratio caused by a reduced frequency of CD4+ T cells and na ve CD4 T cells in CD4 T cells coupled with a diminution of the frequency of CD8+ T cells, CD8+ T cells in CD3+ T cells, and na ve CD8 T cells in CD8 T cells, all in the peripheral blood. Some mice exhibited a reduced frequency of natural killer (NK) cells as well as increased frequencies of effector memory CD8 T cells in CD8 T cells, CD11c+ dendritic cells, and macrophages, all in the peripheral blood. Some mice also exhibited a diminished T-dependent antibody response to ovalbumin administered with aluminum hydroxide.

Heterozygous: No abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
Strain Development
Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.
Suggested Control Mice
Wild-type littermates or C57BL/6J mice

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.

Research Applications

  • Immunology and Inflammation
  • Models for Human Disease
    • Autosomal recessive T- and NK-cell negative/B-cell positive type of severe combined immunodeficiency [T?B+NK- SCID; OMIM: #600802]

Strain Origin

Primary Reference

Wang K-W, Choi JH, Murray AR, Beutler B. Record for thistle. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.

Colony and Husbandry Information

Health Status Report

For more information about this colony's health status contact

Appearance

Coat Color
Black

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Unknown Unknown

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

The donor or their institution limits the distribution to non-profit institutions only.

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Fees

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