ENU mutagenesis induced a C to T point mutation that results in amino acid substitution of valine for alanine at position 243 (A243V). This mutation occures in the C-terminal SH2 domain. Flow cytometry confirmed reduced protein expression on CD4+ CD8+ T cells of the thymus and spleen. (J:211510)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count