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Allele : Atp6ap2<em1Nira> ATPase, H+ transporting, lysosomal accessory protein 2; endonuclease-mediated mutation 1, Nirupama Ramkumar
Primary Identifier  MGI:7490116 Allele Type  Endonuclease-mediated
Attribute String  Not Specified Gene  Atp6ap2
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Arginine codons 276 (AGG) and 279 (AGG) in exon 8 were changed to alanine (GCG) (p.R276A, p.R279A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. These mutations block processing of the encoded peptide by FURIN (paired basic amino acid cleaving enzyme) and site 1 membrane-bound transcription factor peptidase (MBTPS1).
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • mutant sPRR,
  • Atp6ap2<em1Cya>,
  • mutant sPRR,
  • Atp6ap2<em1Cya>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories





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