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Tg(SNCA*A53T)1Nbm
Transgene Detail
Summary
Symbol: Tg(SNCA*A53T)1Nbm
Name: transgene insertion 1, Robert L Nussbaum
MGI ID: MGI:4412061
Synonyms: hSNCAA53T, PAC-Tg(SNCAA53T)
Transgene: Tg(SNCA*A53T)1Nbm  Location: unknown  
Alliance: Tg(SNCA*A53T)1Nbm page
Transgene
origin
Strain of Origin:  FVB/N
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutations:    Duplication, Insertion
  Tg(SNCA*A53T)1Nbm involves 1 genes/genome features (Arsj) View all
 
Tg(SNCA*A53T)1Nbm expresses 1 gene
 
Mutation detailsTo 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. (J:154972, J:156741)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
References
Original:  J:156741 Kuo YM, et al., Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. Hum Mol Genet. 2010 May 1;19(9):1633-50
All:  4 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
11/22/2022
MGI 6.22
The Jackson Laboratory