ENU-induced G to T transversion at base pair 20,290,383 (v38) on chromosome 13, or base pair 199,877 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,314 in the mRNA sequence NM_080288 within exon 13 of 22 total exons. The mutation results in substitution of glutamic acid 326 for a premature stop codon (E326*) in the ELMO1 protein. (J:265231)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count