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Allele : Dnajc6<em1Mcook> DnaJ heat shock protein family (Hsp40) member C6; endonuclease-mediated mutation 1, Mark Cookson

Primary Identifier  MGI:6382419 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Dnajc6
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 857 altering arginine to glycine (R857G; AGG to GGC) in the Hspa8 binding domain of the gene. The mutation is orthologous to the pathogenic human R927G allele associated with juvenile Parkinsonism.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • R857G Auxilin,
  • R857G Auxilin
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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

2 Publication categories

Trail: Allele