ENU-induced A to G transition at base pair 71,113,640 (v38) on chromosome 11, or base pair 31,334 in the GenBank genomic region NC_000077 within the acceptor splice site of intron 4. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation may result in skipping of the 171-base pair exon 5 (out of 14 total exons). Exon 5 encodes amino acids 669 to 725. (J:265174)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count