Allele/Variant

P2rx2em1Xzl

Species
Mus musculus
Symbol
P2rx2em1Xzl
Category
allele
Allele of gene
P2rx2
Transgenic Constructs
None
Synonyms
  • P2rx2 c.179GC
  • P2rx2 KI
Description
Using sgRNA (targeting GCACGATGAAGACGTACCTG) and an ssODN template with CRISPR/Cas9 technology, valine codon 61 (GTC) in exon 2 was changed to leucine (CTC) (c.181G>C, p.V61L). This mutation mimics the human p.V60L mutation associated with a form of dominant early-onset progressive sensorineural hearing loss (DFNA41).
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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