Strain Detail Sheet

Strain Name:
C57BL/6J-Tshrm1Btlr/Mmmh
Stock Number:
038201--TBD-
Citation ID:
RRID:MMRRC_038201--TBD-
Other Names:
freckle
Major Collection:
Beutler Mutagenetix

Strain Information

Gene Details

Tshrm1Btlr
Name: thyroid stimulating hormone receptor; mutation 1, Bruce Beutler
Synonyms: freckle
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 12
Alteration at locus: Chemically Induced
Tshr
Name: thyroid stimulating hormone receptor
Synonyms: hyt, pet, hypothroid
Type: Gene
Species: Mouse
Chromosome: 12
Alteration at locus: Chemically Induced
NCBI: 22095
Homologene: 315
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Genetic Alterations
ENU-induced C to A transversion at base pair 91,538,226 (v38) on chromosome 12, or base pair 137,234 in the GenBank genomic region NC_000078 encoding the Tshr gene. The mutation corresponds to residue 2,029 in the mRNA sequence NM_011648 (variant 1) within exon 10 of 10 total exons; the mutation is not predicted to affect variant 2 (NM_001113404). The mutation coverts serine 646 to a stop codon (S646*) in the canonical isoform of thyroid stimulating hormone receptor (TSHR) protein.

Strain Description

Phenotype

Homozygous: Mice exhibited reduced body weights compared to wild-type mice.

Heterozygous: No abnormal phenotype detected.

Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
  • growth/size/body
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

  • Cell Biology
  • Immunology and Inflammation
  • Endocrine Deficiency
  • Models for Human Disease
    • Familial gestational hyperthyroidism [OMIM: #603373]
    • Nonautoimmune hyperthyroidism [OMIM: #609152]
    • Congenital nongoitrous hypothyroidism 1 [OMIM: #275200]
    • Somatic hyperfunctioning thyroid adenoma
    • Thyroid carcinoma with thyrotoxicosis
  • Cancer

Strain Origin

Primary Reference

Reyna C, Purrington T, SoRelle J, Murray AR, Beutler B. Record for freckle. 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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