Tinf2^tm2.2Tdl
Targeted Allele Detail

Summary

• Symbol: Tinf2^tm2.2Tdl
• Name: Terf1 (TRF1)-interacting nuclear factor 2; targeted mutation 2.2, Titia de Lange
• MGI ID: MGI:5556393
• Synonyms: TIN2^DC
• Gene: Tinf2 Location: Chr14:55912146-55919277 bp, - strand Genetic Position: Chr14, 28.19 cM
• Alliance: Tinf2^tm2.2Tdl 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 (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Cre-mediated recombination removed the transcriptional stop cassette to allow for expression of the modified coding region containing the lysine-to-glutamate subsititution (K267E) commonly found in patients with dyskeratosis congenital (DC). (J:207367)

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 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)