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Allele : Akap4<em1Bbw> A kinase anchor protein 4; endonuclease-mediated mutation 1, Binbin Wang

Primary Identifier  MGI:7707395 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Akap4
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a CGT to CAT change resulting in an arginine to histidine substitution at amino acid 428 (p.R428H). This corresponds to the pathogenic p.R429H variant identified in two siblings with non-obstructive azoospermia. Protein levels are reduced in the testes.
  • mutations:
  • Single point mutation
  • synonyms:
  • Akap4<R428H>,
  • Akap4<R428H>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele