Hcn1^em2Cecad
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hcn1^em2Cecad
• Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1; endonuclease-mediated mutation 2, CECAD, University of Cologne
• MGI ID: MGI:7378664
• Synonyms: Hcn1^{em2(M142I)Cecad}, Hcn1^M142I, Hcn1^MI
• Gene: Hcn1 Location: Chr13:117738856-118117564 bp, + strand Genetic Position: Chr13, 66.34 cM
• Alliance: Hcn1^em2Cecad 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 methionine to isoleucine substitution at amino acid 142 (p.M142I). The p.M142I mutation is orthologous to the human pathogenic variant p.M153I 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)