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Targeted Allele Detail
Symbol: Tfr2tm1Slu
Name: transferrin receptor 2; targeted mutation 1, St Louis School of Medicine
MGI ID: MGI:2384726
Synonyms: TfR2245x, Tfr2Y245X
Gene: Tfr2  Location: Chr5:137569840-137587479 bp, + strand  Genetic Position: Chr5, 76.57 cM
Perl's staining of liver sections of wild-type and Tfr2tm1Slu/Tfr2tm1Slu mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:78360
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Null/knockout)
Mutation:    Single point mutation
Mutation detailsA 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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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tfr2 Mutation:  4 strains or lines available
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
All:  9 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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