This mutation, discovered in an ENU mutagenesis screen, has been identified as a GT to GA substitution in the splicing donor site of exon 9. It may result in abnormal splicing and/or nonsense mediated decay. (J:133634)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count