ENU-induced C to A transversion at base pair 87,715,142 (v38) on chromosome 1, or base pair or 94,831 in the GenBank genomic region NC_000067. The mutation corresponds to residue 2,984 in the mRNA sequence NM_010566 within exon 25 of 27 total exons. The mutation results in a proline to glutamine substitution at amino acid 936 (P936Q) in the SHIP-1 protein. (J:272854)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count