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Allele : Calm1<em1Allg> calmodulin 1; endonuclease-mediated mutation 1, Alfred L George

Primary Identifier  MGI:7623971 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Calm1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an A to G change at position 293 (c.293A>G) resulting in an asparagine to serine substitution at amino acid 98 (p.N98S). This is a human pathogenic variant in calmodulin genes associate with a life-threatening ventricular arrhythmia syndrome, calmodulinopathy.
  • mutations:
  • Single point mutation
  • synonyms:
  • Calm1<S>,
  • Calm1<N98S>,
  • Calm1<N98S>,
  • Calm1<S>
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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