Two selected models of missense mutations in mice for the study of learning behaviour

TY - JOUR

T1 - Two selected models of missense mutations in mice for the study of learning behaviour

AU - Mohajeri, M. Hasan

AU - Giese, K. Peter

PY - 2012/8/1

Y1 - 2012/8/1

N2 - A large number of genome-wide association studies have linked missense mutations, mutations altering the amino acid sequence of proteins, with cognitive impairment in humans. However, these studies are correlative. As there may be multiple mutations for one particular patient, it is essential to address the functional impact of a missense mutation in a model system. The most suitable model system is the generation of knock-in mice with the homologous missense mutation followed by behavioural phenotyping. Here, we review selected mutants demonstrating an impact of single mutations on learning and memory in mice and discuss the relevance of such studies for understanding the role of these polymorphisms in human behaviour. We conclude that using these animal models has been instrumental in decoding the mechanisms underlying behaviour, and assists the design of therapeutic strategies for humans. (C) 2012 Elsevier Inc. All rights reserved.

AB - A large number of genome-wide association studies have linked missense mutations, mutations altering the amino acid sequence of proteins, with cognitive impairment in humans. However, these studies are correlative. As there may be multiple mutations for one particular patient, it is essential to address the functional impact of a missense mutation in a model system. The most suitable model system is the generation of knock-in mice with the homologous missense mutation followed by behavioural phenotyping. Here, we review selected mutants demonstrating an impact of single mutations on learning and memory in mice and discuss the relevance of such studies for understanding the role of these polymorphisms in human behaviour. We conclude that using these animal models has been instrumental in decoding the mechanisms underlying behaviour, and assists the design of therapeutic strategies for humans. (C) 2012 Elsevier Inc. All rights reserved.

U2 - 10.1016/j.brainresbull.2011.12.003

DO - 10.1016/j.brainresbull.2011.12.003

M3 - Literature review

SN - 0361-9230

VL - 88

SP - 429

EP - 433

JO - Brain Research Bulletin

JF - Brain Research Bulletin

IS - 5

ER -