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Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3tm1Ling/+ and Atp1a3 +/D801Y.

eNeuro - 1 Aug 2024

Liu Yi Bessie, Arystarkhova Elena, Sacino Amanda N, Szabari Margit V, Lutz Cathleen M, Terrey Markus, Morsci Natalia S, Jakobs Tatjana C, Lykke-Hartmann Karin, Brashear Allison, Napoli Elenora, Sweadner Kathleen J

Abstract excerpt

ATP1A3 is a Na,K-ATPase gene expressed specifically in neurons in the brain. Human mutations are dominant and produce an unusually wide spectrum of neurological phenotypes, most notably rapid-onset dystonia parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Here we compared heterozygotes of two mouse lines, a line with little or no expression (Atp1a3tm1Ling/+) and a knock-in expressing p.Asp801Tyr...

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Identifiers

PMID: 39111836
DOI: 10.1523/ENEURO.0101-24.2024
PMCID: PMC11360364

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