ENU mutagenesis induced a A>G point mutation which results in a threonine to alanine substitution (p.T342A) in the third immuno-receptor tyrosine-based switch motif (ITSM) in the encoded protein. (J:196519)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count