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Allele : Pla2g6<tm1.1Hlw> phospholipase A2, group VI; targeted mutation 1.1, Hung-Li Wang

Primary Identifier  MGI:6849808 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Pla2g6
Transmission  Germline Strain of Origin  129/Sv
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • PLA2G6<D331Y>,
  • PLA2G6<D331Y>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories