Cacna1d^em1Xen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cacna1d^em1Xen
• Name: calcium channel, voltage-dependent, L type, alpha 1D subunit; endonuclease-mediated mutation 1, Taconic Biosciences
• MGI ID: MGI:7549317
• Synonyms: Cav1.3^AG
• Gene: Cacna1d Location: Chr14:29761898-30213113 bp, - strand Genetic Position: Chr14, 18.43 cM, cytoband B
• Alliance: Cacna1d^em1Xen page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to G change resulting in an alanine to glycine substitution at amino acid 749 (p.A749G). This corresponds to the p.A771G variant reported de novo in a patient with autism spectrum disorder and intellectual impairment. (J:342564)

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: 117 strains or lines available

References

• Original: J:342564 Ortner NJ, et al., The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. JCI Insight. 2023 Oct 23;8(20)
• All: 1 reference(s)