Behavioral and neurochemical characterization of the mlh mutant mice lacking otoconia

Manes, Marianna; Garcia-Gomes, Mariana de Souza Aranha; Sandini, Thaísa Meira; Zaccarelli-Magalhães, Julia; Flório, Jorge Camilo; Alexandre-Ribeiro, Sandra Regina; Wadt, Danilo; Bernardi, Maria Martha; Massironi, Sílvia Maria Gomes; Mori, Cláudia Madalena Cabrera

doi:10.1016/j.bbr.2018.06.012

Cited by 16 publications

(19 citation statements)

References 56 publications

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“…30 These situations are common and the best validated tests used to evaluate the efficacy of antidepressant drugs but have also been applied to the characterization of genetic mutations in mice. 22,30 Our data showed no differences in latency to immobility for TST and FST in bapa compared with the controls, but differences between sexes were registered. In evaluating the despairrelated behaviors of female BALB/cJ, 54 found a significant effect of the estrous cycle in TST.…”

Section: Bjornsson Et Alcontrasting

confidence: 52%

“…In both tests, mice are exposed to an inescapable situation with a moderate level of stress in which immobility is interpreted as a lack of escape‐related behavior . These situations are common and the best validated tests used to evaluate the efficacy of antidepressant drugs but have also been applied to the characterization of genetic mutations in mice . Our data showed no differences in latency to immobility for TST and FST in bapa compared with the controls, but differences between sexes were registered.…”

Section: Discussionmentioning

confidence: 63%

“…TST and FST have been used to assess the sensory and motor function of mutant mice . The TST was performed as described previously .…”

Section: Methodsmentioning

confidence: 99%

“…27 TST and FST have been used to assess the sensory and motor function of mutant mice. 22,28 The TST was performed as described previously. 22,29 Briefly, tape attached to a hook was used to suspend mice by the tail in a single 6-minute trial shot with a camera in front of the apparatus.…”

Section: Phenotypic Characterizationmentioning

confidence: 99%

“…22,28 The TST was performed as described previously. 22,29 Briefly, tape attached to a hook was used to suspend mice by the tail in a single 6-minute trial shot with a camera in front of the apparatus. Immobility time was defined as the mouse not struggling.…”

Section: Phenotypic Characterizationmentioning

confidence: 99%

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Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome

Yamamoto

Souza

Antiorio

et al. 2019

Genes Brain and Behavior

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The recessive mutant mice bate palmas (bapa) ‐ claps in Portuguese arose from N‐ethyl‐N‐nitrosourea mutagenesis. A single nucleotide, T > C, change in exon 13, leading to a Thr1289Ala substitution, was identified in the lysine (K)‐specific methyltransferase 2D gene (Kmt2d) located on chromosome 15. Mutations with a loss‐of‐function in the KMT2D gene on chromosome 12 in humans are responsible for Kabuki syndrome (KS). Phenotypic characterization of the bapa mutant was performed using a behavioral test battery to evaluate the parameters related to general activity, the sensory nervous system, the psychomotor system, and the autonomous nervous system, as well as to measure motor function and spatial memory. Relative to BALB/cJ mice, the bapa mutant showed sensory and psychomotor impairments, such as hypotonia denoted by a surface righting reflex impairment and hindquarter fall, and a reduction in the auricular reflex, suggesting hearing impairment. Additionally, the enhanced general activity showed by the increased rearing and grooming frequency, distance traveled and average speed possibly presupposes the presence of hyperactivity of bapa mice compared with the control group. A slight motor coordination dysfunction was showed in bapa mice, which had a longer crossing time on the balance beam compared with BALB/cJ controls. Male bapa mice also showed spatial gait pattern changes, such as a shorter stride length and shorter step length. In conclusion, the bapa mouse may be a valuable animal model to study the mechanisms involved in psychomotor and behavior impairments, such as hypotonia, fine motor coordination and hyperactivity linked to the Kmt2d mutation.

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