These mice carry a spontaneous remutation at the Kit locus characterized by relatively better homozygote viability than the KitW-v mutation, a classic 'black-eyed-white' phenotype, and mild, normochromic, macrocytic anemia in heterozygotes.Read More +
Mutations at the Kit locus affect various aspects of hematopoiesis, the proliferation and migration of primordial germ cells and melanoblasts during development. The original KitW mutation is lethal when homozygous. KitW-39J homozygotes are somewhat more viable and fertile than KitW-v mice whose homozygotes survive significantly longer than KitW homozygotes. The KitW-39J allele resembles KitW-v in blood formation, producing a mild, normochromic, macrocytic anemia in the heterozygote. Homozygous and heterozygous KitW-39J animals are black-eyed-white as are heterozygotes between KitW-39J and most other KitW mutants.
Embryos were cryopreserved in 1980 by mating heterozygous males to C57BL/6J females.
|Allele Name||dominant spotting 39 Jackson|
|Gene Symbol and Name||Kit, KIT proto-oncogene receptor tyrosine kinase|
|Strain of Origin||C57BL/6J|
|Molecular Note||Direct sequence of this allele and comparison with normal c-kit indicated a nonsynonymous coding mutation of a G-to-T point mutation in ATP biding loop consensus sequence of the kinase domain that result in replacement of the methionine with an isoleucine residue at amino acid 623 position (p.M623I).|