Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders

Michael R. Hunsaker

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

There is a need for refinement of the current behavioral phenotyping methods for mouse models of genetic disorders. The current approach is to perform a behavioral screen using standardized tasks to define a broad phenotype of the model. This phenotype is then compared to what is known concerning the disorder being modeled. The weakness inherent in this approach is twofold: First, the tasks that make up these standard behavioral screens do not model specific behaviors associated with a given genetic mutation but rather phenotypes affected in various genetic disorders; secondly, these behavioral tasks are insufficiently sensitive to identify subtle phenotypes. An alternate phenotyping strategy is to determine the core behavioral phenotypes of the genetic disorder being studied and develop behavioral tasks to evaluate specific hypotheses concerning the behavioral consequences of the genetic mutation. This approach emphasizes direct comparisons between the mouse and human that facilitate the development of neurobehavioral biomarkers or quantitative outcome measures for studies of genetic disorders across species.

Original languageEnglish (US)
Pages (from-to)220-241
Number of pages22
JournalProgress in Neurobiology
Volume96
Issue number2
DOIs
StatePublished - Feb 2012

Fingerprint

Inborn Genetic Diseases
Phenotype
Behavioral Genetics
Outcome Assessment (Health Care)
Mutation
Human Development
Biomarkers

Keywords

  • 22q11.2 Deletion syndrome
  • Behavioral endophenotype
  • Fragile X premutation
  • Fragile X syndrome
  • Transgenic mouse

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders. / Hunsaker, Michael R.

In: Progress in Neurobiology, Vol. 96, No. 2, 02.2012, p. 220-241.

Research output: Contribution to journalArticle

@article{c2a0a6b7cacb4ecfa5279d66892b6bdd,
title = "Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders",
abstract = "There is a need for refinement of the current behavioral phenotyping methods for mouse models of genetic disorders. The current approach is to perform a behavioral screen using standardized tasks to define a broad phenotype of the model. This phenotype is then compared to what is known concerning the disorder being modeled. The weakness inherent in this approach is twofold: First, the tasks that make up these standard behavioral screens do not model specific behaviors associated with a given genetic mutation but rather phenotypes affected in various genetic disorders; secondly, these behavioral tasks are insufficiently sensitive to identify subtle phenotypes. An alternate phenotyping strategy is to determine the core behavioral phenotypes of the genetic disorder being studied and develop behavioral tasks to evaluate specific hypotheses concerning the behavioral consequences of the genetic mutation. This approach emphasizes direct comparisons between the mouse and human that facilitate the development of neurobehavioral biomarkers or quantitative outcome measures for studies of genetic disorders across species.",
keywords = "22q11.2 Deletion syndrome, Behavioral endophenotype, Fragile X premutation, Fragile X syndrome, Transgenic mouse",
author = "Hunsaker, {Michael R.}",
year = "2012",
month = "2",
doi = "10.1016/j.pneurobio.2011.12.001",
language = "English (US)",
volume = "96",
pages = "220--241",
journal = "Progress in Neurobiology",
issn = "0301-0082",
publisher = "Elsevier Limited",
number = "2",

}

TY - JOUR

T1 - Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders

AU - Hunsaker, Michael R.

PY - 2012/2

Y1 - 2012/2

N2 - There is a need for refinement of the current behavioral phenotyping methods for mouse models of genetic disorders. The current approach is to perform a behavioral screen using standardized tasks to define a broad phenotype of the model. This phenotype is then compared to what is known concerning the disorder being modeled. The weakness inherent in this approach is twofold: First, the tasks that make up these standard behavioral screens do not model specific behaviors associated with a given genetic mutation but rather phenotypes affected in various genetic disorders; secondly, these behavioral tasks are insufficiently sensitive to identify subtle phenotypes. An alternate phenotyping strategy is to determine the core behavioral phenotypes of the genetic disorder being studied and develop behavioral tasks to evaluate specific hypotheses concerning the behavioral consequences of the genetic mutation. This approach emphasizes direct comparisons between the mouse and human that facilitate the development of neurobehavioral biomarkers or quantitative outcome measures for studies of genetic disorders across species.

AB - There is a need for refinement of the current behavioral phenotyping methods for mouse models of genetic disorders. The current approach is to perform a behavioral screen using standardized tasks to define a broad phenotype of the model. This phenotype is then compared to what is known concerning the disorder being modeled. The weakness inherent in this approach is twofold: First, the tasks that make up these standard behavioral screens do not model specific behaviors associated with a given genetic mutation but rather phenotypes affected in various genetic disorders; secondly, these behavioral tasks are insufficiently sensitive to identify subtle phenotypes. An alternate phenotyping strategy is to determine the core behavioral phenotypes of the genetic disorder being studied and develop behavioral tasks to evaluate specific hypotheses concerning the behavioral consequences of the genetic mutation. This approach emphasizes direct comparisons between the mouse and human that facilitate the development of neurobehavioral biomarkers or quantitative outcome measures for studies of genetic disorders across species.

KW - 22q11.2 Deletion syndrome

KW - Behavioral endophenotype

KW - Fragile X premutation

KW - Fragile X syndrome

KW - Transgenic mouse

UR - http://www.scopus.com/inward/record.url?scp=84856413416&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84856413416&partnerID=8YFLogxK

U2 - 10.1016/j.pneurobio.2011.12.001

DO - 10.1016/j.pneurobio.2011.12.001

M3 - Article

C2 - 22266125

AN - SCOPUS:84856413416

VL - 96

SP - 220

EP - 241

JO - Progress in Neurobiology

JF - Progress in Neurobiology

SN - 0301-0082

IS - 2

ER -