ENU mutagenesis induced an A to T transversion at base pair 122,424,977 (v38) on chromosome 7, or base pair 135,898 in the GenBank genomic region NC_000073. The mutation corresponds to residue 444 in the mRNA sequence NM_008855 within exon 3 of 17 total exons. The mutation results in a histidine (H) to leucine (L) substitution at position 75 (H75L). (J:217791)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count