Allele/Variant

Pla2g6tm1.1Hlw

Species
Mus musculus
Symbol
Pla2g6tm1.1Hlw
Category
allele
Allele of gene
Pla2g6
Transgenic Constructs
None
Synonyms
  • PLA2G6D331Y
Description
A GAC to TAC change resulting in an aspartate to tyrosine substitution at amino acid 331 (D331Y) was generated in exon 7. A loxP-flanked neomycin selection cassette was inserted 401 nucleotides downstream of the start of exon 7. The neomycin selection cassette was removed via cre-mediated recombination. The p.Asp331Tyr is thought to be the causative mutation of Parkinson's disease 14 in patients. Western blot analysis confirmed similar cytosolic or mitochondrial protein expression as in wild-type mice, however enzyme activity is significantly decreased in the substantia nigra indicting loss of function.
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
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