Camk2a^em1Rjco
Endonuclease-mediated Allele Detail

Summary

• Symbol: Camk2a^em1Rjco
• Name: calcium/calmodulin-dependent protein kinase II alpha; endonuclease-mediated mutation 1, Roger J Colbran
• MGI ID: MGI:5811610
• Synonyms: CaMKII-E183V
• Gene: Camk2a Location: Chr18:61058704-61121224 bp, + strand Genetic Position: Chr18, 34.41 cM
• Alliance: Camk2a^em1Rjco page

Mutation origin

• Strain of Origin: C57BL/6J x DBA/2J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:239596)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Camk2a Mutation: 136 strains or lines available

References

• Original: J:239596 Stephenson JR, et al., A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. J Neurosci. 2017 Feb 22;37(8):2216-2233
• All: 1 reference(s)