ENU-induced A to T transversion at base pair 106,301,404 (v38) on chromosome 11, or base pair 2,300 in the GenBank genomic region NC_000077.6. The mutation corresponds to residue 310 (c.310A>T) in the mRNA sequence NM_008117.3 within exon 2 of 5 total exons. The mutation results in substitution of lysine 55 for a premature stop codon (p.K55*) in the GH protein. (J:274650)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count