Hcn1^em1Cecad
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hcn1^em1Cecad
• Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1; endonuclease-mediated mutation 1, CECAD, University of Cologne
• MGI ID: MGI:7378663
• Synonyms: Hcn1^{em1(G380D)Cecad}, Hcn1^G380D, Hcn1^GD
• Gene: Hcn1 Location: Chr13:117738856-118117564 bp, + strand Genetic Position: Chr13, 66.34 cM
• Alliance: Hcn1^em1Cecad page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a glycine to aspartate substitution at amino acid 380 (p.G380D). The p.G380D mutation is orthologous to the human pathogenic variant p.G391D seen in developmental and epileptic encephalopathy. (J:330406)

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 Hcn1 Mutation: 51 strains or lines available

References

• Original: J:330406 Merseburg A, et al., Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 epileptic encephalopathy. Elife. 2022 Aug 16;11:e70826
• All: 1 reference(s)