Tfr2^tm1Slu
Targeted Allele Detail

Summary

• Symbol: Tfr2^tm1Slu
• Name: transferrin receptor 2; targeted mutation 1, St Louis School of Medicine
• MGI ID: MGI:2384726
• Synonyms: TfR2^245x, Tfr2^Y245X
• Gene: Tfr2 Location: Chr5:137568102-137585743 bp, + strand Genetic Position: Chr5, 76.57 cM
• Alliance: Tfr2^tm1Slu page

Perl's staining of liver sections of wild-type and Tfr2^tm1Slu/Tfr2^tm1Slu mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78360
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Single point mutation
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• 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: 32 strains or lines available

References

• 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: 14 reference(s)