Dnm1^em1Mcou
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnm1^em1Mcou
• Name: dynamin 1; endonuclease-mediated mutation 1, Michael A Cousin
• MGI ID: MGI:7537406
• Synonyms: Dnm1^R237W
• Gene: Dnm1 Location: Chr2:32198483-32243350 bp, - strand Genetic Position: Chr2, 22.09 cM
• Alliance: Dnm1^em1Mcou page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRISPR-Cas9 technologies, R237 residue is critical for GTPase function within the Dnm1 gene was targeted to modify the Dnm1 gene sequence fromCGGAGC (equivalent amino acids 237/238-RS) to TGGTCT (amino acids 237/238-WS). (J:341354)

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 Dnm1 Mutation: 40 strains or lines available

References

• Original: J:341354 Bonnycastle K, et al., Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy. Nat Commun. 2023 Aug 30;14(1):5285
• All: 1 reference(s)