An A to G point mutation is located at position -15 in the 3' splice acceptor of intron 4 (IVS4-15A > G). Quantitative-PCR indicates lower expression levels in heterozygous mice. (J:85113, J:174216)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count