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Allele : Coa8<em1Zev> cytochrome c oxidase assembly factor 8; endonuclease-mediated mutation 1, Massimo Zeviani

Primary Identifier  MGI:6355916 Allele Type  Endonuclease-mediated
Attribute String  Null/knockout Gene  Coa8
Strain of Origin  FVB/NJ Is Recombinase  false
Is Wild Type  false
molecularNote  The molecular lesion, created using CRISPR/Cas9 technology, is a substitution of an A with a TG doublet in exon 2 (c.164delAinsTG, mRNA sequence GenBank NM_026511), which generates a frameshift resulting in a truncated protein (p.Asp55Valfs*20). Skeletal muscle and liver mRNA levels were reduced to 25% and 50%, respectively.
  • mutations:
  • Insertion,
  • Intragenic deletion
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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