ENU treatment induced a C-to-T transition at base pair 56,780,389 (GRCm38) on chromosome 6, equivalent to base pair 17,425 in the GenBank genomic region NC_000072. The mutation corresponds to residue 1,004 in the NM_145958 mRNA sequence in exon 4 of 4 total exons. The mutation results in substitution of an arginine (R) with a premature stop codon at amino acid 121 in the protein (p.R121*). Western blot analysis confirmed the absence of protein expression in the liver and mouse embryonic fibroblasts. (J:217665, J:236520)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count