Allele/Variant

Vps35tm1.1Hlw

Species
Mus musculus
Symbol
Vps35tm1.1Hlw
Category
allele
Allele of gene
Vps35
Transgenic Constructs
None
Synonyms
  • VPS35D620N
Description
Aspartic acid codon 620 (GAT) in exon 15 was changed to asparagine (AAT) (p.D620N) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 15. The neo cassette was removed through subsequent Cre-mediated recombination. The equivalent human mutation is found in some familial type 17 Parkinson’s disease (PARK17) patients.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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