Mouse strain C3H/DiSnA carries a C to T nucleotide substitution at coding nucleotide 1303 (c.1303C>T) changing arginine codon 435 into a premature stop codon in exon 7. Liver mRNA expression is reduced 10-fold in this strain and serum ferrioxidase activity is absent. This allele confers increased liver iron content compared to inbred strain C57BL/10ScSnA and recombinant congenic strain HcB-2/Dem. (J:122133)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count