ENU mutagenesis induced a G to A transition at base pair 70,571,448 (v38) on chromosome 14, or base pair 17,393 in the GenBank genomic region NC_000080 encoding Hr. The mutation corresponds to residue 3,957 in the mRNA sequence NM_021877 within exon 18 of 20 total exons. The mutation results in an arginine (R) to histidine (H) substitution at position 1117 (R1117H) in the ENSMUSP00000124042 isoform of the Hairless (HR) protein and R1088H in the NP_068677 isoform of HR. (J:218969)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count