Exons 11 and 12, containing transmembranes 1, 2 and 3, were replaced with a neomycin resistance cassette. The targeting event introduced a frameshift after exon 12. Western blot confirmed absence of protein in mutant inner ear, hippocampal, and cerebellar homogenates. (J:121999)
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