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Allele : Stat1<em1Iva> signal transducer and activator of transcription 1; endonuclease-mediated mutation 1, Zhenya Ivakine

Primary Identifier  MGI:7620443 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Stat1
Strain of Origin  CD-1 x C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Threonine codon 385 (ACG) in exon 14 was changed to methionine (ATG) (p.T385M) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the DNA-binding domain (DBD) of the encoded peptide, is the equivalent of the same human mutation (the most common DBD mutation), which is associated with autoimmunity and increased susceptibility to infection.
  • mutations:
  • Single point mutation
  • synonyms:
  • stat1<t385m>,
  • stat1<t385m>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele