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Allele : Casq1<em1Slh> calsequestrin 1; endonuclease-mediated mutation 1, Susan L Hamilton

Primary Identifier  MGI:7579292 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Casq1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Aspartic acid codon 244 (GAC) in exon 6 was changed to glycine (GGC) (p.D244G) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with vacuolar aggregate myopathy (VAM).
  • mutations:
  • Single point mutation
  • synonyms:
  • CASQ1<D244G>,
  • CASQ1<D244G>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele