ENU-induced T to A transversion at base pair 87,699,675 (v38) on chromosome 1, or base pair or 79,364 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,874 in the mRNA sequence NM_010566 within exon 15 of 27 total exons. The mutation results in a leucine to glutamine substitution at amino acid 566 (L566Q) in the SHIP-1 protein. (J:272856)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count