ENU mutagenesis induced a transition of A to G leading to an amino acid substitution of glycine for glutamic acid at position 589 (E589G) in the kinase domain. Reduced protein expression was confirmed by western blot analysis on CD4+CD8+ thymocytes. This is a hypomorphic allele. (J:137446)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count