This mutation, discovered among progeny of an ENU-mutagenized male mouse, corresponds to a T-to-C transition at nucleotide position 312 of the gene, in the ninth of its 10 exons. (J:137500)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count