--- _id: '1107' abstract: - lang: eng text: The generation, migration, and differentiation of neurons requires the functional integrity of the microtubule cytoskeleton. Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. Here we present the characterization of a Tubb5 mouse model that allows for the conditional expression of the pathogenic E401K mutation. Homozygous knockin animals exhibit a severe reduction in brain size and in body weight. These animals do not show any significant impairment in general activity, anxiety, or in the acoustic startle response, however, present with notable defects in motor coordination. When assessed on the static rod apparatus mice took longer to orient and often lost their balance completely. Interestingly, mutant animals also showed defects in prepulse inhibition, a phenotype associated with sensorimotor gating and considered an endophenotype for schizophrenia. This study provides insight into the behavioral consequences of tubulin gene mutations. acknowledgement: Austrian Science Fund (FWF) for funding this research [I914,P21092] article_processing_charge: No author: - first_name: Martin full_name: Breuss, Martin last_name: Breuss - first_name: Andi H full_name: Hansen, Andi H id: 38853E16-F248-11E8-B48F-1D18A9856A87 last_name: Hansen - first_name: Lukas full_name: Landler, Lukas last_name: Landler - first_name: David full_name: Keays, David last_name: Keays citation: ama: Breuss M, Hansen AH, Landler L, Keays D. Brain specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behavioural Brain Research. 2017;323:47-55. doi:10.1016/j.bbr.2017.01.029 apa: Breuss, M., Hansen, A. H., Landler, L., & Keays, D. (2017). Brain specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behavioural Brain Research. Elsevier. https://doi.org/10.1016/j.bbr.2017.01.029 chicago: Breuss, Martin, Andi H Hansen, Lukas Landler, and David Keays. “Brain Specific Knockin of the Pathogenic Tubb5 E401K Allele Causes Defects in Motor Coordination and Prepulse Inhibition.” Behavioural Brain Research. Elsevier, 2017. https://doi.org/10.1016/j.bbr.2017.01.029. ieee: M. Breuss, A. H. Hansen, L. Landler, and D. Keays, “Brain specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition,” Behavioural Brain Research, vol. 323. Elsevier, pp. 47–55, 2017. ista: Breuss M, Hansen AH, Landler L, Keays D. 2017. Brain specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behavioural Brain Research. 323, 47–55. mla: Breuss, Martin, et al. “Brain Specific Knockin of the Pathogenic Tubb5 E401K Allele Causes Defects in Motor Coordination and Prepulse Inhibition.” Behavioural Brain Research, vol. 323, Elsevier, 2017, pp. 47–55, doi:10.1016/j.bbr.2017.01.029. short: M. Breuss, A.H. Hansen, L. Landler, D. Keays, Behavioural Brain Research 323 (2017) 47–55. date_created: 2018-12-11T11:50:11Z date_published: 2017-04-14T00:00:00Z date_updated: 2023-09-20T11:37:25Z day: '14' ddc: - '570' - '571' doi: 10.1016/j.bbr.2017.01.029 extern: '1' external_id: isi: - '000397369100007' file: - access_level: open_access content_type: application/pdf creator: system date_created: 2018-12-12T10:12:03Z date_updated: 2018-12-12T10:12:03Z file_id: '4921' file_name: IST-2017-868-v1+1_1-s2.0-S0166432816309160-main.pdf file_size: 2291511 relation: main_file file_date_updated: 2018-12-12T10:12:03Z has_accepted_license: '1' intvolume: ' 323' isi: 1 language: - iso: eng month: '04' oa: 1 oa_version: Published Version page: 47 - 55 publication: Behavioural Brain Research publication_identifier: issn: - '01664328' publication_status: published publisher: Elsevier publist_id: '6262' pubrep_id: '868' quality_controlled: '1' status: public title: Brain specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition tmp: image: /images/cc_by_nc_nd.png legal_code_url: https://creativecommons.org/licenses/by-nc-nd/4.0/legalcode name: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) short: CC BY-NC-ND (4.0) type: journal_article user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1 volume: 323 year: '2017' ...