Figure 1.

New ENU-induced alleles at the Kit locus. (A) Heterozygous individuals carrying the Sco1, Sco5, Sow3 and Whc1 mutations display white spotting on the belly and a white forehead blaze while homozygotes (-/-) have a white coat color with black eyes. (B) Haplotype analysis of 114Sow3/+ mutant mice derived from the F1C3FeB6 × B6 strategy. Markers are shown with their position (Mb) from the centromere of chromosome 5 (position based on Ensembl v33) and the position of the Kit gene is shown by an arrowhead. The black and white boxes represent respectively the B6 and the C3Fe alleles. The cumulative number of mice sharing the same haploid genotype is noted at the top of each column. (C) The mutated amino-acids found in the Sco1, Sco5 alleles are located in the N-terminal hinge part of the intracellular tyrosine kinase domain of the KIT protein, at the vicinity of the T660 amino acid, mutated in the Kit^W-v allele, whereas the F809 modified in Whc1 is found at the level of the Mg²⁺ binding loop of the activation segment. (D) Sequence chromatograph spanning the Sco1, Sco5 and Whc1 mutation sites respectively in exons 12, 14 and 17 of the Kit gene compared with that of a wild-type control from the same genetic background (C3Fe). The amino-acid substitution is labeled in red. (E) Transheterozygous animals carrying the Sow3 and the Kit^W-v or the Kit^W allele exhibit a white coat color and pigmented eyes.