ENU treatment induced a T-to-A mutation changing methionine codon 134 to lysine (p.M134K). The affected residue, adjacent to the phosphatase domain, is evolutonarily conserved. The allele is thought to be hypomorphic. (J:98216)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count