Phenotypes associated with this allele

• Allele Symbol: Atp1a3^tm1.1Tmklh
• Allele Name: targeted mutation 1.1, Karin Lykke-Hartmann
• Allele ID: MGI:6163502
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp1a3^tm1.1Tmklh/Atp1a3^tm1.1Tmklh	B6JRj.129S1-Atp1a3^tm1.1Tmklh	MGI:6163609
ht2	Atp1a3^tm1.1Tmklh/Atp1a3^+	B6JRj.129S1-Atp1a3^tm1.1Tmklh	MGI:6163608

Genotype
MGI:6163609

hm1

• Allelic Composition: Atp1a3^tm1.1Tmklh/Atp1a3^tm1.1Tmklh
• Genetic Background: B6JRj.129S1-Atp1a3^tm1.1Tmklh

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

mortality/aging

neonatal lethality, complete penetrance ( J:254463 )

Genotype
MGI:6163608

ht2

• Allelic Composition: Atp1a3^tm1.1Tmklh/Atp1a3⁺
• Genetic Background: B6JRj.129S1-Atp1a3^tm1.1Tmklh

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:254463 )

• induced by pentylenetetrazole

preweaning lethality, incomplete penetrance ( J:254463 )

• fewer than expected mice are present at 3 weeks of age

behavior/neurological

behavior/neurological phenotype ( J:254463 )

N • mice do not exhibit spontaneous seizures

abnormal behavior ( J:254463 )

• in an elevated plus maze, mice do not discriminate between open and closed arms and spend more time in the open arms compared with wild-type mice

increased susceptibility to pharmacologically induced seizures ( J:254463 )

• induced by pentylenetetrazole with increased lethality

impaired passive avoidance behavior ( J:254463 )

• mice exhibit reduced latency to re-enter the dark compartment compared with wild-type mice

• however, clonazepam-treatment normalizes performance

abnormal habituation to a new environment ( J:254463 )

• minimal habituation in an open field

• in response to handling

impaired spatial learning ( J:254463 )

• in the Barnes Maze, mice do not exhibit increased latency to enter the escape tube but walk past the tube multiple times before entering compared with wild-type mice

hyperactivity ( J:254463 )

• in an open field test

nervous system

nervous system phenotype ( J:254463 )

N • CA1 pyramidal neurons exhibit normal excitability

increased susceptibility to pharmacologically induced seizures ( J:254463 )

• induced by pentylenetetrazole with increased lethality

abnormal dentate gyrus morphology ( J:254463 )

• large number of pyknotic nuclei within the dentate gyrus granule cell layer

abnormal hippocampus granule cell morphology ( J:254463 )

• reduced hippocampal dentate gyrus granule cells

abnormal action potential ( J:254463 )

• reduced rate of decay and slower initial discharge rate

• however, mice exhibit normal threshold of induction and steady-state electroresponsive behavior

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:254463 )

• induced by pentylenetetrazole

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:254463