Tg(SNCA*A53T)1Nbm
Transgene Detail
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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
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Alliance: |
Tg(SNCA*A53T)1Nbm page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutations: |
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Duplication, Insertion
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Tg(SNCA*A53T)1Nbm involves 1 genes/genome features (Arsj)
View all
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Tg(SNCA*A53T)1Nbm expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
SNCA (6622) |
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Mutation details: 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.
(J:154972, J:156741)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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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: |
8 reference(s) |
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