Cacna1e^em1Ult
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cacna1e^em1Ult
• Name: calcium channel, voltage-dependent, R type, alpha 1E subunit; endonuclease-mediated mutation 1, Sila K Ultanir
• MGI ID: MGI:7517181
• Synonyms: Cacna1e^em1(S15A)Ult, Cav2.3 Ser15Ala
• Gene: Cacna1e Location: Chr1:154266477-154760247 bp, - strand Genetic Position: Chr1, 66.14 cM
• Alliance: Cacna1e^em1Ult page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced the mutation responsible for the amino acid substitution of serine with alanine at position 15 (p.S15A). Total S15 phosphorylation levels detected by a phosphoantibody are reduced to background levels of less than 10% of controls in homozygotes. (J:343552)

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 Cacna1e Mutation: 102 strains or lines available

References

• Original: J:343552 Sampedro-Castaneda M, et al., Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. Nat Commun. 2023 Dec 11;14(1):7830
• All: 1 reference(s)