ENU-induced A to G substitution at base pair 44,750,394 (v38) on chromosome 9, or at base pair 17,415 in the GenBank genomic region NC_000075. The mutation corresponds to a T>C substitution at residue 1,308 in the mRNA sequence NM_145985.4 within exon 8 of 10 total exons. The mutation results in a valine to alanine substitution at position 391 (p.V391A) in the ARCN1 protein. (J:274820)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count