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Phenotypes Associated with This Genotype
Genotype
MGI:6197063
Allelic
Composition
Atp1a3tm1Mika/Atp1a3+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp1a3tm1Mika mutation (0 available); any Atp1a3 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit increased mortality, with highest mortality in the second quarter of life and no mice surviving beyond 264 days
• 33% of mice die during a witnessed seizure

growth/size/body
• mice are smaller at weaning
• weights of females, but not males, are decreased at P100

behavior/neurological
• in the novel object recognition (episodic memory) test, mice do not show preference for the novel object when one of the familiar objects is replaced with the novel object as seen in controls
• mice spend less time in the peripheral zone and more time exploring the central squares of the open field, indicating decreased exploratory behavior
• mice exhibit decreased discrimination between novel and familiar objects
• in the open-field, mice engage in brief spells of limb-dragging, indicating motor performance abnormalities
• mice exhibit more hind-limb clasping during tail suspension
• mice fall earlier and at lower speeds on the accelerating rotarod
• mice require more time to transverse both the large and small beams, having difficulty gripping the beam with their hind-limbs and having a greater number of hind-limb slips
• 7 of 8 mice fall while trying to transverse the small beam
• however, grip strength is normal
• mice exhibit paroxysmal spells of hemiplegia and dystonia in response to exposure to water and to stress in the forced swim test, with 63% of mice experiencing dystonia after water submersion
• mice exhibit reduced spontaneous locomotor behavior
• mice show initially little movement when placed in the open-field, with latency to begin locomotion lasting up to 40 seconds in some cases
• mice exhibit a wider hind-limb stance but normal front-limb stance
• mice exhibit episodes of hemiplegia or seizures around time of weaning at P21-P28, either spontaneously or upon stimulation like introduction to new cage
• 75% of mice experience hemiplegia after water submersion
• vestibular stimulation results in a longer episode of immobility than in controls and produces hemiplegia in all mice
• 3 month old mice treated with flunarizine exhibit shorter duration of hemiplegic episodes induced by the forced swim test, however the number of hemiplegic spells does not change and neither a long term beneficial or detrimental effect on behavioral tests is seen
• mice have spontaneous seizures in the first few days of life and exhibit episodes of hemiplegia or seizures around time of weaning at P21-P28 either spontaneously or upon stimulation like introduction to new cage
• mice exhibit spontaneous recurrent behavioral seizures, with multiple recurrences of the seizures, 2-4 per day, reaching Racine Class IV or V with forelimb clonus, rearing, and rapid, repetitive jerking movements
• hippocampal electrographic seizure activity is recorded during behavioral seizures
• vestibular stimulation results in a longer episode of immobility than in controls and produces Racine stage IV seizures in 3/4 of mice
• EEG recordings at the kindled state show that mice require fewer number of stimulations to elicit the first class IV/V seizures and to reach the fully kindled state, more class IV/V events per stimulation, and longer After-Discharge Duration of the class IV/V seizures at the fully kindled state

muscle
• mice exhibit paroxysmal spells of hemiplegia and dystonia in response to exposure to water and to stress in the forced swim test, with 63% of mice experiencing dystonia after water submersion

nervous system
• mice have spontaneous seizures in the first few days of life and exhibit episodes of hemiplegia or seizures around time of weaning at P21-P28 either spontaneously or upon stimulation like introduction to new cage
• mice exhibit spontaneous recurrent behavioral seizures, with multiple recurrences of the seizures, 2-4 per day, reaching Racine Class IV or V with forelimb clonus, rearing, and rapid, repetitive jerking movements
• hippocampal electrographic seizure activity is recorded during behavioral seizures
• vestibular stimulation results in a longer episode of immobility than in controls and produces Racine stage IV seizures in 3/4 of mice
• EEG recordings at the kindled state show that mice require fewer number of stimulations to elicit the first class IV/V seizures and to reach the fully kindled state, more class IV/V events per stimulation, and longer After-Discharge Duration of the class IV/V seizures at the fully kindled state

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
alternating hemiplegia of childhood DOID:0050635 OMIM:104290
OMIM:614820
J:264408


Contributing Projects:
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
02/16/2021
MGI 6.16
The Jackson Laboratory