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| Nomenclature |
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Symbol:
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Hfetm1.1Nca
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Name:
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hemochromatosis;
targeted mutation 1.1, Nancy C Andrews
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MGI ID: |
MGI:2385350 |
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Synonyms: |
C282Y, Hfe845A, (Y) |
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Gene:
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Hfe
Location:
Chr13:23702034-23710854 bp, - strand
Genetic Position: Chr13,
9.88 cM, cytoband A2-A4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:78536
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A hypomorphic allele was generated by removing the floxed selection cassette from Hfetm1Nca, leaving the cytosine to tyrosine missense mutation at codon 282. The substitution disrupts an intramolecular disulfide bond and putatively affects Beta2-microglobulin binding. RT-PCR analysis confirmed the presence of properly spliced transcript in mutant mice. (J:78536)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:78536
Levy JE et al.,
"The C282Y mutation causing hereditary hemochromatosis does not produce a null allele."
Blood 1999 Jul 1;94(1):9-11
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All: |
8 reference(s)
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Analysis Tools
