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Allele Symbol Allele Name Allele ID |
Arxtm1Gldn targeted mutation 1, Jeffrey A Golden MGI:3803178 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• beta cell do not transdifferentiate into alpha cells unlike in Nkx2-2tm2.1Suss homozygotes
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• at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• whole brain is smaller than wild-type brain at E18.5
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• normal distribution of interneurons in cerebral cortex is lost in mutants, with Calb1+ interneurons restricted to subcortical and subventricular regions
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• olfactory bulbs are nearly absent at E18.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer than the expected number of male offspring are recovered from litters from crosses between cre-expressing males and Arxtm1Gldn females
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• a siginificant number of mutant males die early in the postnatal period
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• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
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• some mice display arrest of acitivity/freezing seizures
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• all adult mice develop spontaneous brief seizures
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing
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N |
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
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• some mice display seizures characterized by whole body flexion or extension movements resembling epileptic spasms
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• some mice display arrest of acitivity/freezing seizures
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• all adult mice develop spontaneous brief seizures
• all P14-17 mice demonstrate spontaneous seizures consisting of body arching with forelimb clonus and rearing
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• a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes
• smaller reductions are observed in numbers and distribution of calretinin-labeled neurons compared to controls
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• in P90-120 day-old mice, EEG is disrupted compared to controls; mice display pattern of moderate to higher amplitude and faster frequency activity
• abnormal activity is more apparent in the hippocampal rather than cortical electrodes
• adult animals show a lack of normal 4-7 Hz rhythmic theta activity while awake; hippocampal theta activity is rarely recorded, but when present has faster activity superimposed on the normal theta
• while sleeping, a lack of normal delta power and rhythmic delta activity seen in controls
• mice have a decrease in delta activity and an increase in faster frequency activity
• P14-17 animals display EEGs with slower background with lower voltage than mature controls; one animal showed infrequent large amplitude spikes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| early infantile epileptic encephalopathy | DOID:0050709 | J:148311 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• some adult mice develop convulsive Racine stage 5 seizures
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• some adult mice display epileptic spasm seizures
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• some adult mice display arrest of acitivity/freezing seizures
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• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
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N |
• no brain weight or gross morphological differences are detected in adult or P14-17 animals compared to controls
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• some adult mice develop convulsive Racine stage 5 seizures
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• some adult mice display epileptic spasm seizures
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• some adult mice display arrest of acitivity/freezing seizures
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• about half of adult female mice develop spontaneous brief seizures of various types
• P14-17 mice develop seizures at a similar rate to adult females; no epileptic spasm seizures are recorded in mice at this ages
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• a prominent reduction in calbindin-labeled neurons in the neocortex compared to controls in the hippocampus, pattern of staining of interneurons is altered from cell body staining to mainly staining interneuron processes
• a significant reduction is observed in numbers and distribution of calretinin-labeled neurons compared to controls
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• EEGs of female mice exhibit abnormal background activity; EEG is periodically interrupted by longer runs of higher amplitude, faster rhythms, and demonstrates excessive sharp activity
• females show no decrease in Delta band activity, but do exhibit an increase in faster frequency activity like male mutants
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| early infantile epileptic encephalopathy | DOID:0050709 | J:148311 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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 04/16/2024 MGI 6.23 |
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