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Allele : Atp6v0a1<em1Hisa> ATPase, H+ transporting, lysosomal V0 subunit A1; endonuclease-mediated mutation 1, Hirotomo Saitsu

Primary Identifier  MGI:6711345 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Atp6v0a1
Strain of Origin  ICR Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a GA to AG change in exon 19 resulting in an arginine to glutamine substitution at residue 741 (p.R741Q) which corresponds to the human variant identified in an individual with developmental and epileptic encephalopathy.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Atp6v0a1<R741Q>,
  • Atp6v0a1<R741Q>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele