Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a 3 tm1Ling/+ and Atp1a3 +/D801Y
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...
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Published in | eNeuro Vol. 11; no. 8; p. ENEURO.0101-24.2024 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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01.08.2024
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Abstract | 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 (
3
) and a knock-in expressing p.Asp801Tyr (D801Y,
). Both mouse lines had normal lifespans, but
had mild perinatal mortality contrasting with D801N mice (
), which had high mortality. The phenotypes of
3
and
were different, and testing of each strain was tailored to its symptom range.
3
mice displayed little at baseline, but repeated ethanol intoxication produced hyperkinetic motor abnormalities not seen in littermate controls.
mice displayed robust phenotypes: hyperactivity, diminished posture consistent with hypotonia, and deficiencies in beam walk and wire hang tests. Symptoms also included qualitative motor abnormalities that are not well quantified by conventional tests. Paradoxically,
showed sustained better performance than wild type on the accelerating rotarod.
mice were overactive in forced swimming and afterward had intense shivering, transient dystonic postures, and delayed recovery. Remarkably,
mice were refractory to ketamine anesthesia, which elicited hyperactivity and dyskinesia even at higher dose. Neither mouse line exhibited fixed dystonia (typical of RDP patients), spontaneous paroxysmal weakness (typical of AHC patients), or seizures but had consistent, measurable neurological abnormalities. A gradient of variation supports the importance of studying multiple
mutations in animal models to understand the roles of this gene in human disease. |
---|---|
AbstractList | 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 (
3
) and a knock-in expressing p.Asp801Tyr (D801Y,
). Both mouse lines had normal lifespans, but
had mild perinatal mortality contrasting with D801N mice (
), which had high mortality. The phenotypes of
3
and
were different, and testing of each strain was tailored to its symptom range.
3
mice displayed little at baseline, but repeated ethanol intoxication produced hyperkinetic motor abnormalities not seen in littermate controls.
mice displayed robust phenotypes: hyperactivity, diminished posture consistent with hypotonia, and deficiencies in beam walk and wire hang tests. Symptoms also included qualitative motor abnormalities that are not well quantified by conventional tests. Paradoxically,
showed sustained better performance than wild type on the accelerating rotarod.
mice were overactive in forced swimming and afterward had intense shivering, transient dystonic postures, and delayed recovery. Remarkably,
mice were refractory to ketamine anesthesia, which elicited hyperactivity and dyskinesia even at higher dose. Neither mouse line exhibited fixed dystonia (typical of RDP patients), spontaneous paroxysmal weakness (typical of AHC patients), or seizures but had consistent, measurable neurological abnormalities. A gradient of variation supports the importance of studying multiple
mutations in animal models to understand the roles of this gene in human disease. 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 ( Atp1a 3 tm1Ling/+ ) and a knock-in expressing p.Asp801Tyr (D801Y, Atp1a3 +/D801Y ). Both mouse lines had normal lifespans, but Atp1a3 +/D801Y had mild perinatal mortality contrasting with D801N mice ( Atp1a3 +/D801N ), which had high mortality. The phenotypes of Atp1a 3 tm1Ling/+ and Atp1a3 +/D801Y were different, and testing of each strain was tailored to its symptom range. Atp1a 3 tm1Ling/+ mice displayed little at baseline, but repeated ethanol intoxication produced hyperkinetic motor abnormalities not seen in littermate controls. Atp1a3 +/D801Y mice displayed robust phenotypes: hyperactivity, diminished posture consistent with hypotonia, and deficiencies in beam walk and wire hang tests. Symptoms also included qualitative motor abnormalities that are not well quantified by conventional tests. Paradoxically, Atp1a3 +/D801Y showed sustained better performance than wild type on the accelerating rotarod. Atp1a3 +/D801Y mice were overactive in forced swimming and afterward had intense shivering, transient dystonic postures, and delayed recovery. Remarkably, Atp1a3 +/D801Y mice were refractory to ketamine anesthesia, which elicited hyperactivity and dyskinesia even at higher dose. Neither mouse line exhibited fixed dystonia (typical of RDP patients), spontaneous paroxysmal weakness (typical of AHC patients), or seizures but had consistent, measurable neurological abnormalities. A gradient of variation supports the importance of studying multiple Atp1a3 mutations in animal models to understand the roles of this gene in human disease. |
Author | Morsci, Natalia S Lutz, Cathleen M Jakobs, Tatjana C Liu, Yi Bessie Napoli, Elenora Szabari, Margit V Arystarkhova, Elena Brashear, Allison Lykke-Hartmann, Karin Terrey, Markus Sacino, Amanda N Sweadner, Kathleen J |
Author_xml | – sequence: 1 givenname: Yi Bessie surname: Liu fullname: Liu, Yi Bessie organization: Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114 – sequence: 2 givenname: Elena surname: Arystarkhova fullname: Arystarkhova, Elena organization: Harvard Medical School, Boston, Massachusetts 02115 – sequence: 3 givenname: Amanda N surname: Sacino fullname: Sacino, Amanda N organization: Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114 – sequence: 4 givenname: Margit V surname: Szabari fullname: Szabari, Margit V organization: Department Anesthesia, Massachusetts General Hospital, Boston, Massachusetts 02114 – sequence: 5 givenname: Cathleen M surname: Lutz fullname: Lutz, Cathleen M organization: The Jackson Laboratory, Bar Harbor, Maine 04609 – sequence: 6 givenname: Markus surname: Terrey fullname: Terrey, Markus organization: The Jackson Laboratory, Bar Harbor, Maine 04609 – sequence: 7 givenname: Natalia S surname: Morsci fullname: Morsci, Natalia S – sequence: 8 givenname: Tatjana C surname: Jakobs fullname: Jakobs, Tatjana C organization: Department of Ophthalmology, Massachusetts Eye and Ear Infirmary/Schepens Eye Research Institute, Harvard Medical School, Boston, Massachusetts 02114 – sequence: 9 givenname: Karin surname: Lykke-Hartmann fullname: Lykke-Hartmann, Karin organization: Department of Biomedicine, Aarhus University, Aarhus 8000, Denmark – sequence: 10 givenname: Allison surname: Brashear fullname: Brashear, Allison organization: Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York 14203 – sequence: 11 givenname: Elenora surname: Napoli fullname: Napoli, Elenora organization: Department of Neurology, University of California Davis School of Medicine, Sacramento, California 95817 – sequence: 12 givenname: Kathleen J orcidid: 0000-0002-2817-5262 surname: Sweadner fullname: Sweadner, Kathleen J email: ksweadner@mgh.harvard.edu organization: Harvard Medical School, Boston, Massachusetts 02115 |
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Snippet | 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... 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... |
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SubjectTerms | Animals Disease Models, Animal Dystonic Disorders - genetics Female Hemiplegia - genetics Male Mice Mice, Inbred C57BL Mice, Transgenic Neurons - metabolism Phenotype Sodium-Potassium-Exchanging ATPase - genetics Sodium-Potassium-Exchanging ATPase - metabolism |
Title | Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a 3 tm1Ling/+ and Atp1a3 +/D801Y |
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