ENU treatment caused a T491A substitution in exon 3, which changes isoleucine codon 164 into an asparagine codon (p.Ile164Asn). Ile164 is a conserved residue and in homozygous mice virtually no protein is detected in liver and heart mitochondria via immunoblotting. (J:239883)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count