This allele was identified in the progeny of a cross between ENU mutagenized C57BL/6J males and C3H/HeHa females. A T to C transition occurred at nucleotide 46 resulting in a W16R amino acid change in the resulting protein. (J:522, J:39328)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count