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Allele : Camk2a<em1Rjco> calcium/calmodulin-dependent protein kinase II alpha; endonuclease-mediated mutation 1, Roger J Colbran

Primary Identifier  MGI:5811610 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Camk2a
Strain of Origin  C57BL/6J x DBA/2J Is Recombinase  false
Is Wild Type  false
molecularNote  Using the CRISPR/Cas9 system, the Glu183 codon GAA was targeted and changed to valine codon GTG with the aid of a donor DNA sequence and sgRNA CTCCCCAGAAGTGCTGAGGAAAG. This mutation, in the catalytic domain of the gene, models a novel mutation in a human autism spectrum disorder (ASD) patient. Immunoblots showed a marked reduction in peptide levels for this gene in the forebrain of hetero- and homozygous mutants.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • CaMKII-E183V,
  • CaMKII-E183V
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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

3 Publication categories

Trail: Allele