The c-kit kinase defects conferred by the moderately dominant, homozygous viable allele KitW-55J is attributed to a single-point mutation within the kinase domain of the c-kit polypeptide (a C to A point mutation resulting in the substitution of a methionine for Thr660 within the ATP-binding domain). Homozygotes are all white with severe anemia and are sterile. Heterozygotes have a white spot with mild anemia and have normal fertility.
The KitW-55J remutation occurred on C57BL/6J (Stock No. 000664), and was cryopreserved in 1988 by mating heterozygous males to C57BL/6J females.
|Allele Name||dominant spotting 55 Jackson|
|Gene Symbol and Name||Kit, KIT proto-oncogene receptor tyrosine kinase|
|Strain of Origin||C57BL/6J|
|Molecular Note||Nucleotide sequence analysis revealed that a C-to-T point mutation results in the substitution of threonine with methionine at position 660 (p.T660M), which is within the ATP-binding domain.|