ENU mutagenesis induced A to T transversion at base pair 56423352 (v38) on Chromosome 7 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2424 in the NM_021879 mRNA sequence in exon 22 of 24 total exons. The mutation results in a tyrosine (Y) to phenylalanine (F) substitution at residue 765. (J:212065)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count