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Allele : Tg(SNCA*A53T)1Nbm transgene insertion 1, Robert L Nussbaum

Primary Identifier  MGI:4412061 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(SNCA*A53T)1Nbm
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  To generate the PAC-Tg(SNCAA53T) transgene, the 146 kb RPCI-1 human male P1 artificial chromosome (PAC) clone 27M07, containing the entire human SNCA (synuclein, alpha (non A4 component of amyloid precursor)) gene and 34 kb of its upstream region, was modified to have the A53T human mutation associated with autosomal dominant Parkinson's disease. The transgene integration site is Chr3:126,388,132-126,412,554 (genome build GRCm38/mm10). The copy number estimate for line 1 is ~6 copies as hemizygote (~12 copies as homozygote). The Chr3 integration is accompanied by a 24 kb genomic duplication and genomic rearrangements within and near the duplicated region. The duplicated region contains exons 1 and 2 of the Arsj locus.
  • mutations:
  • Insertion,
  • Duplication
  • synonyms:
  • PAC-Tg(SNCA<A53T>),
  • PAC-Tg(SNCA<A53T>),
  • hSNCA<A53T>,
  • hSNCA<A53T>
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

1 Mutation Involves

Trail: Allele

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

9 Publication categories

Trail: Allele