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Allele : Tinf2<tm2.2Tdl> Terf1 (TRF1)-interacting nuclear factor 2; targeted mutation 2.2, Titia de Lange
Primary Identifier  MGI:5556393 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Tinf2
Transmission  Germline Strain of Origin  B6(Cg)-Tyr<c-2J>/J
Is Recombinase  false Is Wild Type  false
molecularNote  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).
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • TIN2<DC>,
  • TIN2<DC>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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