Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

Kraemer, Brian C.; Schuck, Theresa; Wheeler, Jeanna M.; Robinson, Linda C.; Trojanowski, John Q.; Lee, Virginia M. Y.; Schellenberg, Gerard D.

doi:10.1007/s00401-010-0659-0

Cited by 350Amyotrophic Lateral Sclerosis ResearchMuscle Physiology and DisordersHereditary Neurological Disorders

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

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Kraemer, Brian C., Schuck, Theresa, Wheeler, Jeanna M., Robinson, Linda C., Trojanowski, John Q., Lee, Virginia M. Y., Schellenberg, Gerard D.·2010·Acta Neuropathologica

DOI 10.1007/s00401-010-0659-0PMC PMC2880609

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Abstract

Abnormal TDP-43 aggregation is a prominent feature in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. Mutations in TARDBP, the gene encoding TDP-43, cause some cases of ALS. The normal function of TDP-43 remains incompletely understood. To better understand TDP-43 biology, we generated mutant mice carrying a genetrap disruption of Tardbp. Mice homozygous for loss of TDP-43 are not viable. TDP-43 deficient embryos die about day 7.5 of embryonic development thereby demonstrating that TDP-43 protein is essential for normal prenatal development and survival. However, heterozygous Tardbp mutant mice exhibit signs of motor disturbance and muscle weakness. Compared with wild type control littermates, Tardbp (+/-) animals have significantly decreased forelimb grip strength and display deficits in a standard inverted grid test despite no evidence of pathologic changes in motor neurons. Thus, TDP-43 is essential for viability, and mild reduction in TDP-43 function is sufficient to cause motor deficits without degeneration of motor neurons.

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ALS-like phenotypes are seen in mice with partial depletion of TDP43 by RNA interference or with targeted deletion of Tdp43 in motor neurons.
“ALS-like phenotypes are seen in mice with partial depletion of TDP43 by RNA interference, or with targeted deletion of Tdp43 in motor neurons”
From The neurogenetics of alternative splicing (2016) · cites this paper as [163]

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Authors: Kraemer, B. C., Schuck, T., Wheeler, J. M., Robinson, L. C., Trojanowski, J. Q., Lee, V. M. Y., & Schellenberg, G. D.
Affiliations: University of Washington (US)
University of Pennsylvania (US)
VA Puget Sound Health Care System (US)
Corresponding author: Kraemer, Brian C.
ORCID: Kraemer, Brian C.
Wheeler, Jeanna M.
Trojanowski, John Q.
Lee, Virginia M. Y.
Schellenberg, Gerard D.
Venue: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Published: 2010-03-03
Volume: 119
Issue: 4
Pages: 409-419
ISSN: 0001-6322 (ISSN-L)
1432-0533
DOI: 10.1007/s00401-010-0659-0
PMC: PMC2880609
OpenAlex: W2011396520
Cited by: 350
References: 53
Citations by year: 2026: 6 · 2025: 14 · 2024: 22 · 2023: 29 · 2022: 22 · 2021: 25 · 2020: 19 · 2019: 23 · 2018: 25 · 2017: 19 · 2016: 16 · 2015: 15 · 2014: 23 · 2013: 26 · 2012: 27
FWCI: 17.34
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Acta Neuropathologica (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Department of Veterans Affairs
Office of Research and Development
National Institutes of Health
University of California, Davis
National Institute on Aging (P01AG017586, AG17586)
National Institute of Neurological Disorders and Stroke (NS064131, R01NS064131)
Topics: Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: TDP-43, TARDBP, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, TARDBP mutations, embryonic lethality, motor impairment, muscle weakness, grip strength, motor neurons, protein aggregation
MeSH terms: Amyotrophic Lateral Sclerosis, Animals, DNA-Binding Proteins, Forelimb, Heterozygote, Mice, Inbred C57BL, Motor Activity, Motor Neurons, Mutation, Muscle, Skeletal, Hand Strength, Embryonic Development, Mice

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Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

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