This spontaneous allele contains a 116 bp insertion between exons 4 and 5 (c.864_865ins116) and a 1 bp deletion in exon 7 (c.1042delT) which both result in a frame shift and premature stop codon (p.L348fsX362). (J:111892, J:154763)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count