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Targeted Allele Detail
Symbol: Tfr2tm1.1Anro
Name: transferrin receptor 2; targeted mutation 1.1, Antonella Roetto
MGI ID: MGI:4458417
Gene: Tfr2  Location: Chr5:137569840-137587479 bp, + strand  Genetic Position: Chr5, 76.57 cM
Germline Transmission:  Earliest citation of germline transmission: J:160785
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence, Modified isoform(s))
Mutations:    Insertion, Single point mutation
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Tfr2 Mutation:  14 strains or lines available
ES cell line = C14
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
All:  2 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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last database update
MGI 6.04
The Jackson Laboratory