Cacna1d^em1Cont
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cacna1d^em1Cont
• Name: calcium channel, voltage-dependent, L type, alpha 1D subunit; endonuclease-mediated mutation 1, Anis Contractor
• MGI ID: MGI:8323031
• Synonyms: Cacna1d^G407R
• Gene: Cacna1d Location: Chr14:29761898-30213113 bp, - strand Genetic Position: Chr14, 18.43 cM, cytoband B
• Alliance: Cacna1d^em1Cont page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glycine codon 407 (GGA), straddling exons 8 and 9, was changed to arginine (AGA) (p.G407R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human gain-of-function mutation associated with autism spectrum disorder (ASD). In mice this causes delayed inactivation of dendritic Ca²⁺ channels, which leads to impaired nitric oxide (NO)-dependent long-term postsynaptic depression (NO-LTD) of glutamatergic striatal spiny projection neuron (SPN) synapses. (J:353799)

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 Cacna1d Mutation: 118 strains or lines available

References

• Original: J:353799 Zhai S, et al., Ca(2+)-dependent phosphodiesterase 1 regulates the plasticity of striatal spiny projection neuron glutamatergic synapses. Cell Rep. 2024 Aug 27;43(8):114540
• All: 1 reference(s)