Tinf2^tm2.1Tdl
Targeted Allele Detail

Summary

• Symbol: Tinf2^tm2.1Tdl
• Name: Terf1 (TRF1)-interacting nuclear factor 2; targeted mutation 2.1, Titia de Lange
• MGI ID: MGI:5556226
• Synonyms: TIN2^DC-cond, TIN2-K267E-neo
• Gene: Tinf2 Location: Chr14:55912146-55919277 bp, - strand Genetic Position: Chr14, 28.19 cM
• Alliance: Tinf2^tm2.1Tdl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:207367
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: B6(Cg)-Tyr^c-2J/J

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting construct was designed to insert a loxP-flanked transcriptional STOP cassette (Puro-4x polyA) between exons 2 and 3, and an FRT-flanked neomycin (neo) resistance cassette downstream of exon 7 of the gene. A mutation was introduced in amino acid 267 in exon 6, corresponding to human amino acid 280, resulting in a lysine-to-glutamate mutation, (K267E) commonly found in patients with dyskeratosis congenital (DC). Mutant mice were bred with Tg(ACTFLPe)9205Dym mice (on a C57BL/6 congenic background (N10)) to remove the neo selection cassette. (J:207367)

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 Tinf2 Mutation: 14 strains or lines available

References

• Original: J:207367 Frescas D, et al., A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice. Genes Dev. 2014 Jan 15;28(2):153-66
• All: 1 reference(s)