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Allele : Tinf2<tm2.1Tdl> Terf1 (TRF1)-interacting nuclear factor 2; targeted mutation 2.1, Titia de Lange

Primary Identifier  MGI:5556226 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence, No functional change Gene  Tinf2
Transmission  Germline Strain of Origin  B6(Cg)-Tyr<c-2J>/J
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • TIN2-K267E-neo,
  • TIN2<DC-cond>,
  • TIN2-K267E-neo,
  • TIN2<DC-cond>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele