A W131A (TGG->GCG, tryptophan to alanine) mutation was introduced into exon 2 and a neomycin cassette (flanked by loxP sites and inserted in reverse transcriptional orientation) was placed in intron 3. Cre-mediated recombination removed the floxed neo cassette. The mutation, located in interdomain A reduces protein expression by 50% in thymocytes and peripheral T cells. (J:241231)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count