ENU-induced G to T transversion at base pair 48,743,098 (v38) on chromosome 6, or base pair 4,052 in the GenBank genomic region NC_000072 encoding Gimap1. The mutation corresponds to residue 808 in the mRNA sequence NM_008376 within exon 3 of 3 total exons. The mutation results in a glycine to tryptophan substitution at position 215 (G215W) in the GIMAP1 protein. (J:267546)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count