ENU induces an A to G transition that destroys the splice signal. This mutation results in the inclusion of 49 bp from the 3' end of intron 1 and protein truncation after 54 new amino acids (p.S110TfsX55). (J:154551)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count