Phenotypes Associated with This Genotype

Genotype
MGI:6162678

• Allelic Composition: Atp1a3^tm1Ute/Atp1a3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:262419 )

• one of three mice exhibiting spontaneous seizures exhibits premature death

• of three of four mice kindled mice

behavior/neurological

behavior/neurological phenotype ( J:262419 )

N • mice exhibit normal cued conditioning, grip strength and tail flick task response

abnormal behavior ( J:262419 )

• mice take longer to find a hidden platform or crawl onto a marked platform compared with wild-type mice

• mice exhibit normal grip strength

abnormal long-term object recognition memory ( J:262419 )

• mice exhibit equal preference for two identical objects in a novel object task

decreased anxiety-related response ( J:262419 )

• in an open field test, mice exhibit increased activity including in the center area compared with wild-type mice

limb grasping ( J:262419 )

dystonia ( J:262419 )

• in 15 of 16 mice, predominantly upon exposure to water

tremors ( J:262419 )

• during the beam-walking task

ataxia ( J:262419 )

• severe during the beam-walking task

impaired coordination ( J:262419 )

• mice take longer to cross a beam, exhibit more hindlimb slips, and often use their forelimbs to drag themselves across unlike wild-type mice

• however, mice exhibit normal performance on an accelerated rotarod

short stride length ( J:262419 )

hyperactivity ( J:262419 )

• in an open field test, mice exhibit increased activity including in the center area compared with wild-type mice

hemiplegia ( J:262419 )

• reversible hemiplegia or hemipareses in 14 of 35 mice at between 8 and 28 weeks of age often during handling

• hemiplegias become bilateral and alternated within the same spell

hemiparesis ( J:262419 )

• reversible hemiplegia or hemipareses in 14 of 35 mice at between 8 and 28 weeks of age often during handling

increased thermal nociceptive threshold ( J:262419 )

• longer latency to response

seizures ( J:262419 )

• spontaneous and recurrent

increased susceptibility to pharmacologically induced seizures ( J:262419 )

• reduced latency to seizure onset induced by flurothyl

increased kindling response ( J:262419 )

• longer after discharge duration after achieving the fully kindled state

nervous system

seizures ( J:262419 )

• spontaneous and recurrent

increased susceptibility to pharmacologically induced seizures ( J:262419 )

• reduced latency to seizure onset induced by flurothyl

increased kindling response ( J:262419 )

• longer after discharge duration after achieving the fully kindled state

abnormal CNS synaptic transmission ( J:262419 )

• increased excitability with polyspikes in 5 of 6 mice induced by 30 1 Hz pulses with gradual increase in number of spikes and area, increased area of polyspike in response to paired-pulse stimulation, and larger spreading depression duration and area

• however, the fEPSP slope and amplitude are normal during repetitive stimulation

growth/size/body

growth/size/body region phenotype ( J:262419 )

N • mice exhibit normal trunk length

decreased body weight ( J:262419 )

♂ • at 6, 8, 9 and 11 weeks in male mice

♂ • however, female mice exhibit normal weight

muscle

dystonia ( J:262419 )

• in 15 of 16 mice, predominantly upon exposure to water

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alternating hemiplegia of childhood		DOID:0050635	OMIM:104290 OMIM:614820 OMIM:PS104290	J:262419