Strain Detail Sheet

Strain Name:
C57BL/6J-Jak3m2Btlr/Mmmh
Stock Number:
038161--TBD-
Citation ID:
RRID:MMRRC_038161--TBD-
Other Names:
citron
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Jak3m2Btlr
Name: Janus kinase 3; mutation 2, Bruce Beutler
Synonyms: citron
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
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Genetic Alterations
ENU-induced C to T transition at base pair 71,686,976 (v38) on chromosome 8, or base pair 10,594 in the GenBank genomic region NC_000074 for the Jak3 gene. The mutation is located within the donor splice site of intron 22, four nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing would cause skipping of the 118 base pair exon 22 (out of 25 total exons; exon 22 encodes amino acids 990-1028) and a frame-shift that results in coding of two aberrant amino acids followed by a premature stop codon in exon 23.

Strain Description

Phenotype

Homozygous: Mice showed an increase in the B:T cell ratio due to an increased frequency of B cells as well as an increased frequency of IgM+ B cells and a higher percentage of IgD+ B cells, all in the peripheral blood.

Heterozygous: No signficant 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

Zeng M, Wang K-W, Choi JH, Murray AR, Beutler B. Record for citron. 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.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

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