Dnm1^tm1Frk
Targeted Allele Detail

Summary

• Symbol: Dnm1^tm1Frk
• Name: dynamin 1; targeted mutation 1, Wayne N Frankel
• MGI ID: MGI:8257049
• Synonyms: Dnm1^G359A, Dnm1^G359A-cKI
• Gene: Dnm1 Location: Chr2:32198483-32243350 bp, - strand Genetic Position: Chr2, 22.09 cM
• Alliance: Dnm1^tm1Frk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:373297
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NTac)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: A gene trap cassette, comprising a loxP site, adenovirus splice acceptor sequences, EGFP reporter gene in-frame with a neomycin resistance gene, bovine GH poly(A) signal sequences and a second loxP site, was inserted into intron 7 and exons 8 through 10a were replaced with genomic sequence containing those exons where exon 8 is mutated. The mutation entails the change of glycine codon 395 (GGA) to alanine (GCA) (p.G359A). This is a knockout allele and only after Cre-mediated deletion of the gene trap will it express the mutated protein, which models the mutant protein found in some patients presenting with DNM1 developmental and epileptic encephalopathy (DEE). (J:373297)

Disease models

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:373297 Jones DJ, et al., Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy. Mol Ther. 2024 Oct 2;32(10):3318-3330
• All: 1 reference(s)