Allele/Variant

Pigkem2Linwu

Species
Mus musculus
Symbol
Pigkem2Linwu
Category
allele
Allele of gene
Pigk
Transgenic Constructs
None
Synonyms
  • PigkD204H
Description
Aspartic acid codon 204 (GAC) in exon 7 was changed to histidine (CAC) (p.D204H) using an sgRNA (targeting GTTCATTATTGACACTTGCC) and an ssODN template with CRISPR/Cas9 technology. The mutation mimics the same human mutation associated with severe infantile encephalopathy.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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