Part of exon 3, all of exon 4 and most of exon 5 were replaced with a neomycin resistance gene. This deletion resulted in the loss of 92 amino acids followed by a frame shift. RT-PCR of mutant liver, gut, lung and kidney confirmed absence of transcript. (J:100071)
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