A.B6-Kit^W-v/BeiMmjax

Stock number: 016588
Product name: viable dominant spotting
Research areas: Cancer Research, Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research, Research Tools, Sensorineural Research

Description

Kit^W-v homozygotes resemble Kit^W homozygotes in color, anemia, and germ cells, but many of them survive to maturity. Mice on this background exhibit poor viability, mast cell defects, decreased airway hyperresponsiveness and sterility.

Detailed description

Homozygote: Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. Kit^W-v homozygotes resemble Kit^W homozygotes in color, anemia, and germ cells, but many of them survive to maturity. On the A/J background, the classic black-eyed albino phenotype cannot be used to assess genotype. The donating investigator reports that mice on this background exhibit poor viability, mast cell defects, decreased airway hyperresponsiveness and sterility. On the hybrid (C57BL/6 x A/J)F1 background, Kit^W homozygotes are viable and exhibit decreased airway hyperresponsiveness.

Heterozygote: Not evaluated. On the albino A/J background, coat color markings are not visible.

Development

The viable dominant spotting (W-v) mutation arose spontaneously in a strain of mice described as silvered black self (wwBBslslSS) at The Jackson Laboratory in 1937. The mutation was maintained as a cross to C57BL/6J for at least 98 generations. It was introgressed into A/J for 10 generations in the laboratory of Dr. David Beier at Brigham and Women's Hospital. All tested SNP markers outside of the congenic region were A/J in origin. The strain was donated to the MMRRC in 2011.

Allele

Symbol: Kit^W-v
Name: viable dominant spotting
MGI accession ID: MGI:1856266
Generation method: Spontaneous
Marker symbol: Kit
Marker name: KIT proto-oncogene receptor tyrosine kinase
Chromosome: 5
Strain of origin: silvered black strain
Molecular note: A C-to-T point mutation at coding nucleotide 1979 (transcript NM_021099) results in a threonine to methionine substitution at amino acid 660 (p.T660M).