This mutation, discovered in an ENU mutagenesis screen, encodes a single nucleotide substitution (T867C) in the mRNA sequence resulting in an amino acid substitution (Tyr288His) in the protein. (J:104190, J:145194)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count