These mice carry a spontaneous mutation at the Kit locus characterized by homozygous lethality and considerable white spotting of 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 and KitW-37J are severe lethal mutations when homozygous. Analysis of the coding sequence shows a G to A point mutation at nucleotide 1772 that results in a glutamic acid to lysine substitution at amino acid 582, four amino acids from the N-terminus of the kinase domain. The 160 kd cell membrane form of the c-KitW37 protein displays accelerated turnover characteristics.
Embryos were cryopreserved in 1980 by mating heterozygous males to C57BL/6J females.
|Allele Name||dominant spotting 37 Jackson|
|Gene Symbol and Name||Kit, KIT proto-oncogene receptor tyrosine kinase|
|Strain of Origin||C57BL/6J|
|Molecular Note||Analysis of the coding sequence showed a G-to-A point mutation at nucleotide 1772 that results in a glutamic acid to lysine substitution at amino acid 582 (p.E582K), four amino acids from the N-terminus of the kinase domain.|