Analysis using pulsed-field gel electrophoresis revealed that this allele comprises a 2.8 Mb inversion with one breakpoint 5' to the Kit coding sequence and the other breakpoint located between the genes Tec and Gabrb1. This inversion juxtaposes the genes Pdgfra and Gabrb1 on the proximal side and Kit and Tec on the distal side of the inversion. (J:38382)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count