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Allele : Stat1<tm1.1Shwj> signal transducer and activator of transcription 1; targeted mutation 1.1, Shaun W Jackson

Primary Identifier  MGI:7520580 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence Gene  Stat1
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
description  Generated by BioCytogen
molecularNote  A loxP site was inserted into intron 9 and an FRT site flanked neomycin resistance gene cassette, an mloxP site, an inverted and mutated copy of exon 10, a second loxP site and a second mloxP site were inserted into intron 10. Only after Cre-mediated recombination, when the mutated exon 10 inverts and replaces the wildtype exon through specific recombination between the two loxP sites and the two mloxP sites, will the mutated transcript and peptide be expressed. The mutation involved changing arginine codon 274 (CGT) to glutamine (CAA) (p.R274Q), which replicates the same human mutation found in autosomal dominant chronic mucocutaneous candidiasis (CMCC) patients. The neo cassette was removed through subsequent Flp-mediated recombination.
  • mutations:
  • Insertion
  • synonyms:
  • Stat1<GOF>,
  • Stat1<GOF>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories