This mutation was identified in an ENU mutagenesis screen. It constitutes a T-to-G transversion in intron 12 that results in altered mRNA splicing. Homozygous mutant mice express two processed transcripts, the normal, wild-type mRNA and a second lacking exon 12 and having a premature stop codon in exon 13. T cells of mutant mice express reduced levels of SLP76/LCP2.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count