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Allele : Dnm1<em1Mcou> dynamin 1; endonuclease-mediated mutation 1, Michael A Cousin

Primary Identifier	MGI:7537406	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Dnm1
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

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).

mutations:
Nucleotide substitutions

synonyms:
Dnm1<R237W>,
Dnm1<R237W>

earliestPublication:
Bonnycastle K, et al. (2023) Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy. Nat Commun 14(1):5285

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

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