A neo cassette was inserted into intron 6. In the wild-type allele this intron is always spliced out but in the mutated allele in some transcripts only part of intron 6 (between neo and exon 7) is spliced out, resulting in the expression of both wild-type and truncated protein product. Expression of the truncated and full length protein products was confirmed by western blot analysis on protein extracted from the epidermis. (J:125621)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count