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Allele : Myo9a<em1Atuf> myosin IXa; endonuclease-mediated mutation 1, Alda Tufro

Primary Identifier  MGI:6681833 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Myo9a
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a C to T mutation in exon 14 which substitutes CGA encoding arginine to TGA, a stop codon that predicts termination of translation at amino acid 701 (p.R701*). This mutation has been identified in a family with focal segmental glomerulosclerosis.
  • mutations:
  • Single point mutation
  • synonyms:
  • Myo9a<R701X>,
  • Myo9a<R701X>
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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