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| Nomenclature |
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Symbol:
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Tfr2tm1.1Anro
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Name:
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transferrin receptor 2;
targeted mutation 1.1, Antonella Roetto
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MGI ID: |
MGI:4458417 |
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Gene:
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Tfr2
Location:
Chr5:137569851-137587481 bp, + strand
Genetic Position: Chr5,
76.57 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:160785
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Parent Cell Line:
| Other (see notes) (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: A lox P was inserted upstream of a modified exon 4 and a floxed neo cassette was inserted downstream of exon 6. The modified exon 4 contains nucleotide substitution (T to A) that resulted in the amino acid substitution of lysine for methionine at position 167 (M167K). This mutation inactivates the translation initiation codon for the beta isoform. The corresponding mutation has been observed in human patients with Hemochromatosis, Type 3. Cre mediated recombination removed the neo cassette. The expression of the alpha isoform and the absence of expression of the beta isoform was confirmed by western blot analysis. (J:160785)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tfr2 Mutation:
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4 strains or lines available |
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Notes |
ES cell line = C14
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| References |
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Original: |
J:160785
Roetto A et al.,
"Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues."
Blood 2010 Apr 22;115(16):3382-9
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All: |
2 reference(s)
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Analysis Tools
