The mutation in the bpk mouse was identified as a 2 base pair insertion in exon 22. This mutation is predicted to extent the length of Transcript A by 129 amino acids. Transcript B would be unaffected since the stop codon in Transcript B occurs before the mutation. (J:82707)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count