ENU mutagenesis induced a T to A transversion that results in the amino acid substitution of lysine for methionine at position 252 (M252K) in the third transmembrane domain. This allele is hypomorphic. (J:194595)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count