Exons 1 and 2 were replaced with a neo cassette. The 50% reduction of protein expression was confirmed by quantitative western blot analysis on heart, spleen, liver, testis, kidney, brain, lung, muscle and skin extracts from heterozygous mice. (J:141257)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count