Cp^m1Cbea
Spontaneous Allele Detail

Summary

• Symbol: Cp^m1Cbea
• Name: ceruloplasmin; mutation 1, Carole Beaumont
• MGI ID: MGI:3714926
• Synonyms: Cp^R435X
• Gene: Cp Location: Chr3:20011218-20063309 bp, + strand Genetic Position: Chr3, 6.1 cM, cytoband D
• Alliance: Cp^m1Cbea page

Mutation origin

• Strain of Origin: C3H/DiSnA

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cp Mutation: 76 strains or lines available

References

• Original: J:122133 Gouya L, et al., Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. Gastroenterology. 2007 Feb;132(2):679-86
• All: 1 reference(s)