Tfr2^tm1.1Anro
Targeted Allele Detail

Summary

• Symbol: Tfr2^tm1.1Anro
• Name: transferrin receptor 2; targeted mutation 1.1, Antonella Roetto
• MGI ID: MGI:4458417
• Gene: Tfr2 Location: Chr5:137568102-137585743 bp, + strand Genetic Position: Chr5, 76.57 cM
• Alliance: Tfr2^tm1.1Anro page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160785
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Single point mutation
• 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 a nucleotide substitution (T to A) that results in the amino acid substitution of lysine for methionine at position 167 (p.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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• 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: 32 strains or lines available

Notes

ES cell line = C14

References

• 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)