Mutations at the Kit locus affect various aspects of hematopoiesis, the proliferation and migration of primordial germ cells and melanoblasts during development. Phenotypic effects of KitW-40J heterozygotes are almost indistinguishable from those of the classic KitW allele. The original KitW mutation and KitW-40J are lethal mutations when homozygous.
Embryos were cryopreserved in 1980 by mating heterozygous males to C57BL/6J females.
|Allele Name||dominant spotting 40 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 5-bp deletion in N-term extracellular domain that result in a frameshift yielding two nonsynonymous substitutions (R186C and A188S) and an in-frame, premature STOP at position 190.|