C57BL/6J-Kit^W-42J/J

Stock number: 000127
Product name: dominant spotting 42 Jackson
Strain synonyms: W⁴²
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

These mice carry a spontaneous remutation at the Kit locus characterized by homozygous lethality and a nearly complete white coat color.

Detailed description

Mutations at the Kit locus affect various aspects of hematopoiesis, the proliferation and migration of primordial germ cells and melanoblasts during development. The Kit^W-42J mutation has been analyzed as a G to A transition (position 2369) resulting in a missense mutation. Kit receptor tyrosine kinase activity is affected but not c-kit encoded proteins. The original Kit^W mutation and Kit^W-42J are lethal mutations when homozygous.

Development

Embryos were cryopreserved in 1980 by mating heterozygous males to C57BL/6J females.

Allele

Symbol: Kit^W-42J
Name: dominant spotting 42 Jackson
MGI accession ID: MGI:1856245
Generation method: Spontaneous
Synonyms: W^e; W-42
Marker symbol: Kit
Marker name: KIT proto-oncogene receptor tyrosine kinase
Marker synonyms: belly-spot; CD117; c-KIT; Dominant white spotting; Gsfsco1; Gsfsco5; Gsfsow3; MASTC; PBT; SCFR; SCO1; SCO5; SOW3; Steel Factor Receptor; Tr-kit
Chromosome: 5
Strain of origin: C57BL/6J
Molecular note: Nucleotide sequence analysis of mutant complementary DNAs revealed a G-to-A transition (coding nucleotide 2368 in NM_021099) resulting in a aspartic acid to asparagine mutation at codson 790 (p.D790N). Kit receptor tyrosine kinase activity is affected but not c-kit encoded proteins.