Allele/Variant

Plaaem1Pmi

Species
Mus musculus
Symbol
Plaaem1Pmi
Category
allele
Allele of gene
Plaa
Transgenic Constructs
None
Synonyms
  • PlaaG23V
Description
CRISPR/Cas technology introduced nucleotide substitutions that result in the amino acid substitution of valine for glycine at position 23 (p.Gly23Val). This mutation is associated with disease in human patients. Western blots show a 70% reduction in protein expression from this allele.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
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