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 2 copies of the transgene. Analysis of the residual vector backbone indicates the transgenes in this line may not be intact. (J:169611)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count