Exons 1 and 2 were replaced with a neo cassette. Absence of protein product was confirmed by northern and western blot analysis of brain, heart, kidney, liver and lung tissue. (J:112896, J:125192)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count