Tfrc^tm2Nca
Targeted Allele Detail

Summary

• Symbol: Tfrc^tm2Nca
• Name: transferrin receptor; targeted mutation 2, Nancy C Andrews
• MGI ID: MGI:3778906
• Synonyms: Tfr1^L622A
• Gene: Tfrc Location: Chr16:32427738-32451612 bp, + strand Genetic Position: Chr16, 23.06 cM
• Alliance: Tfrc^tm2Nca page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:133221
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 17 was replaced with one in which a nucleotide susbtitution resulted in an amino acid substitution of alanine for leucine at position 622 (L622A). A floxed neo cassette was also inserted downstream of exon 17 but was subsequently removed by germ-line, cre-mediated recombination. This mutation prevents binding to Hfe but does not interfer with binding to Tf. (J:133221)

Expression

In Structures Affected by this Mutation:

1 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 Tfrc Mutation: 64 strains or lines available

References

• Original: J:133221 Schmidt PJ, et al., The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression. Cell Metab. 2008 Mar;7(3):205-14
• All: 1 reference(s)