This transgene consists of the mouse BAC clone RP23-274L11 which contains the entire Kit locus. The Kit locus in the BAC was modified by the insertion of a floxed stop cassette into intron 1 and the insertion of an A to T point mutation in exon 17 resulting in an aspartic acid to valine mutation at position 814. This mutation is homologous to the D816V mutation in humans. This line carries more than 10 copies of the transgene. (J:169611)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count