This spontaneous mutation occurred at The Jackson Laboratory. A small intragenic deletion (nt 1702_1758 in GenBank NM_146200.1). This mutation is predicted to result in a 19-aa deletion in the encoded protein. (J:172775)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count