ENU-induced A to G transition at base pair 125,312,808 on chromosome 6, corresponding to base pair 1,063 in GenBank genomic region NC_000072. The mutation corresponds to residue 622 in the mRNA sequence NM_010736 within exon 4 of 10 total exons. The mutation results in a histidine to arginine substitution at position 141 (H141R) in the LTR protein. (J:264820)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count