ENU mutagenesis led to a C-to-T mutation that causes the substitution of a highly conserved arginine in the PH domain with cysteine at position 27 (p.R27C). (J:291290)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count