Search Criteria: Research Area is "Mouse/Human Gene Homologs: hemochromatosis"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 005063 | 129-Hfetm1.1Nca/J | Repository-Cryopreserved |
| Mice that are homozygous for the targeted mutation are viable and fertile. These mice carry the "C282Y" mutant Hfe allele, which encodes a tyrosine to cysteine amino acid substitution at codon 282. Expression of the missense mutation is detected by RT-PCR analysis. Homozygotes exhibit hemochromatosis, accumulating hepatic iron postnatally. These mice have a phenotype that is intermediate between wildtype mice and mice that are homozygous for the null allele, Hfetm2Nca. This mutant mouse strain may be useful in studies of hereditary hemochromatosis. | ||
| 003812 | B6.129P2-Hfetm1Gfn/J | Repository-Cryopreserved |
| At birth, mice homozygous null for the Hfe gene are viable, normal in size and do not display any gross physical or behavioral abnormalities. Adult mice are fertile. Full-length Hfe transcripts are not detected in either liver or kidney tissue. A poorly expressed, alternate transcript resulting from a direct splicing event between exons 1 and 4 is detected. At twelve weeks of age, a significant elevation in plasma and hepatic iron concentration is evident as is an increase in levels of saturated transferrin. Excess iron stores may be the result of enhanced duodenal iron absorbtion. This strain represents a viable animal model of human hemochromatosis. | ||
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