The gene was disrupted at exon 9 by insertion of a neo cassette and exons 10, 7, 8, and 9. The insertion and duplication results in a frameshift and premature translation termination. The mutant allele was confirmed by RT-PCR analysis. (J:61978)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count