Analysis Tools
behavior/neurological
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• on a rotarod, mice exhibit reduced performance compared with wild-type mice
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Allele Symbol Allele Name Allele ID |
Cacna1gtm1Hssh targeted mutation 1, Hee-Sup Shin MGI:2182962 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• on a rotarod, mice exhibit reduced performance compared with wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• T-type calcium current in isolated cells from the sinoatrial node and the atrioventricular node and in right atrium myocytes is abolished in mutants
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• sedated mutants exhibit a slower intrinsic in vivo heart rate and conscious unrestrained mutants show bradycardia
• injection of atropine and propranolol to block the autonomic nervous system results in a significantly longer RR interval and a 10% reduction in intrinsic heart rate
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• delay in atrioventricular conduction; atrial-His conduction times are longer than in wild-type, however His-ventricle intervals are normal
• atrioventricular effective refractory period is significantly longer than in wild-type
• decremental atrial pacing shows that Wenckebach cycle length is significantly longer in mutants
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• 9% prolongation of atrioventricular conduction under baseline conditions
• injection of atropine and propranolol to block the autonomic nervous system results in a prolonged PQ interval
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• prolonged sinoatrial node recovery time
• sinoatrial node cells show a 37% lowing of the cellular beating rate that is accompanied by a 44% reduction of the diastolic depolarization slope
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• whole-cell voltage clamp analysis of low-voltage activated T-type calcium currents indicates that calcium currents are completely absent in the thalamocortical relay neurons
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• mutants show resistance to baclofen- or gamma-butyrolactone-induced absence seizures
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• thalamus is resistant to the generation of spike-and-wave discharges in response to GABA-B receptor activation by baclofen and gamma-butyrolactone injection
• synchronized intra-thalamic oscillations in response to baclofen-mediated hyperpolarization are not observed in mutants
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• thalamocortical relay neurons of the mutant mice lack the burst mode firing of action potentials, however they show a normal pattern of tonic mode firing
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• mutants show resistance to baclofen- or gamma-butyrolactone-induced absence seizures
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• thalamus is resistant to the generation of spike-and-wave discharges in response to GABA-B receptor activation by baclofen and gamma-butyrolactone injection
• synchronized intra-thalamic oscillations in response to baclofen-mediated hyperpolarization are not observed in mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• on a rotarod, mice fail to exhibit motor learning over several days unlike wild-type mice
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• when moving or suspended by tail but not when relaxed
• mice exhibit stronger tremors than Cacna1gtm1Hssh homozygotes
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• on a rotarod, mice exhibit reduced performance compared with wild-type mice and fail to exhibit motor learning over several days
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• mild at 8 months of age
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• propranolol-treated mice exhibit impaired suppression of tremors compared with similarly treated wild-type mice
• however, mice exhibit normal anti-tremor response to ethanol treatment
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| essential tremor | DOID:4990 |
OMIM:PS190300 |
J:174980 | |
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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