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Tinf2tm2.1Tdl
Targeted Allele Detail
Nomenclature
Symbol: Tinf2tm2.1Tdl
Name: Terf1 (TRF1)-interacting nuclear factor 2; targeted mutation 2.1, Titia de Lange
MGI ID: MGI:5556226
Synonyms: TIN2DC-cond, TIN2-K267E-neo
Gene: Tinf2  Location: Chr14:55913664-55919301 bp, - strand  Genetic Position: Chr14, 28.19 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:207367
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  B6(Cg)-Tyrc-2J/J
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence, No functional change)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  9 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory