Tfrc^tm1Geha
Targeted Allele Detail

Summary

• Symbol: Tfrc^tm1Geha
• Name: transferrin receptor; targeted mutation 1, Raif S Geha
• MGI ID: MGI:5896838
• Synonyms: Tfrc^Y20H
• Gene: Tfrc Location: Chr16:32427738-32451612 bp, + strand Genetic Position: Chr16, 23.06 cM
• Alliance: Tfrc^tm1Geha page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:231935
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: The p.Tyr20His mutation was engineered by site directed mutagenesis and inserted into exon 3. A neomycin resistance gene under the phosphoglycerate kinase 1 promoter, used as a positive selectable marker. (J:231935)

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 Tfrc Mutation: 63 strains or lines available

References

• Original: J:231935 Jabara HH, et al., A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan;48(1):74-8
• All: 1 reference(s)