Analysis Tools|
Allele Symbol Allele Name Allele ID |
Dnm1tm1Frk targeted mutation 1, Wayne N Frankel MGI:8257049 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit a low incidence of lethal seizures late in adulthood
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| N |
• mice do not show any early growth deficits
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show 100% lethal seizures starting as early as P12, fully penetrant by 3 weeks
• newborns administered a modest dose of an AAV9-based vector encoding a ubiquitously expressed, Dnm1-specific interfering RNA (RNAi) bivalently in tail-to-tail configuration with a neuron-specific, RNAi resistant, codon-optimized Dnm1 cDNA (RNAi and cDNA gene therapy) show prolonged survival with almost full growth recovery, however older RNAi and cDNA gene therapy treated mice exhibit aggression and females are not successful at raising their pups
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• mice show growth defects
• newborns administered a modest dose of the RNAi and cDNA gene therapy show prolonged survival with almost full growth recovery
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• mice show 100% lethal seizures starting as early as P12, fully penetrant by 3 weeks
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• mice show 100% lethal seizures starting as early as P12, fully penetrant by 3 weeks
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• the amplitude of evoked inhibitory responses onto excitatory neurons is decreased and the paired pulse ratio is increased, indicating an impairment in presynaptic GABA release
• however, amplitude and paired pulse ratios of evoked excitatory currents onto inhibitory neurons are unaltered
• the alterations in transmission from inhibitory to excitatory neurons are rectified by RNAi and cDNA gene therapy application
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• although no change in the frequency of mIPSCs is seen, the size of IPSCs is increased in neurons and is reversed by tetrodotoxin treatment
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• the paired pulse ratio of evoked inhibitory responses onto excitatory neurons is increased
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| developmental and epileptic encephalopathy 31A | DOID:0080437 |
OMIM:616346 |
J:373297 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show some lethality later in adulthood
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• mice have significant growth deficits
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• mice show some lethality later in adulthood, with 75% having non-lethal handling-associated seizures
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• mice show some lethality later in adulthood, with 75% having non-lethal handling-associated seizures
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• almost 50% of mice die of indeterminate cause as early as a few days postnatal
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• surviving mice show very significant growth deficits from P5
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| N |
• no overt abnormal behaviors or seizures are seen in surviving mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice show no significant growth deficits
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 10/07/2025 MGI 6.24 |
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