---
_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.
    <i>Behavioural Brain Research</i>. 2017;323:47-55. doi:<a href="https://doi.org/10.1016/j.bbr.2017.01.029">10.1016/j.bbr.2017.01.029</a>
  apa: Breuss, M., Hansen, A. H., Landler, L., &#38; Keays, D. (2017). Brain specific
    knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination
    and prepulse inhibition. <i>Behavioural Brain Research</i>. Elsevier. <a href="https://doi.org/10.1016/j.bbr.2017.01.029">https://doi.org/10.1016/j.bbr.2017.01.029</a>
  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.” <i>Behavioural Brain Research</i>. Elsevier, 2017. <a
    href="https://doi.org/10.1016/j.bbr.2017.01.029">https://doi.org/10.1016/j.bbr.2017.01.029</a>.
  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,” <i>Behavioural Brain Research</i>, 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.” <i>Behavioural
    Brain Research</i>, vol. 323, Elsevier, 2017, pp. 47–55, doi:<a href="https://doi.org/10.1016/j.bbr.2017.01.029">10.1016/j.bbr.2017.01.029</a>.
  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
license: https://creativecommons.org/licenses/by-nc-nd/4.0/
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'
...