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| Nomenclature |
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Symbol:
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Tfr2tm1Slu
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Name:
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transferrin receptor 2;
targeted mutation 1, St Louis School of Medicine
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MGI ID: |
MGI:2384726 |
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Synonyms: |
TfR2245x, Tfr2Y245X |
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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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Perl's staining of liver sections of wild-type and Tfr2tm1Slu/Tfr2tm1Slu mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:78360
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Single point mutation |
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Mutation details: A construct containing a nonsense mutation at codon 245 (in exon 6 and orthologous to human position 250) and a floxed neo cassette in intron 6 was incorporated at the endogenous locus via homologous recombination. Transient transfection of ES cells with cre excised the neo cassette, leaving a single loxP site. Northern blot analysis of total hepatic RNA showed a reduced abundance of normal size transcript in homozygous mutant mice, putatively due to nonsense-mediated decay. Encoded protein was undetected by Western blot analysis. (J:78360)
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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:78360
Fleming RE et al.,
"Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis."
Proc Natl Acad Sci U S A 2002 Aug 6;99(16):10653-8
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All: |
7 reference(s)
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Analysis Tools
