Mutant Phenotype Evaluation

Mutant phenotype evaluation is the systematic assessment of how a genetic mutation alters an organism’s observable traits, providing evidence about gene function and biological pathways. In neuroscience, researchers compare mutant and control animals or cells using behavioral, anatomical, physiological, and molecular measurements while accounting for genetic background, age, sex, and environmental conditions. This process can reveal changes in locomotion, sensory processing, synaptic activity, neural development, or disease-related behaviors, linking genetic variation to nervous-system function. Careful phenotype characterization supports the study of mechanisms underlying neurological disorders and helps evaluate candidate disease models or therapeutic targets.

Mutant Phenotype Evaluation - Related Videos

Research

JoVE Journal - Medicine

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

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Cited by 8 •

2016

Primary cilia influence various signaling pathways. The mammalian cochlea is ideal for examining planar cell polarity (PCP) signaling. Cilia dysfunction affects cochlear outgrowth, cellular patterning and hair cell orientation, readouts of PCP. Our goal is to analyze PCP signaling in mouse cochlea via phenotypic analysis, immunohistochemistry and scanning electron microscopy.

Phenotypic Comparison of Wild-Type and Mutant Strains of Streptomyces coelicolor

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2025

Source: Bennett, J. A., et al. Visual and Microscopic Evaluation of Streptomyces Developmental Mutants. J. Vis. Exp. (2018)This video demonstrates the cultivation and phenotypic comparison of wild-type and mutant Streptomyces coelicolor strains. It outlines procedures for minimizing spontaneous mutations, preventing cross-contamination, and promoting bacterial growth through proper plating techniques. Finally, the video highlights visual differences in colony morphology to illustrate the...

Research

JoVE Journal - Immunology and Infection
Free Sample

Generation and Multi-phenotypic High-content Screening of Coxiella burnetii Transposon Mutants

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Cited by 28 •

2015

Coxiella burnetii is an obligate intracellular Gram-negative bacterium responsible for the zoonotic disease Q fever. Here we describe methods for the generation of Coxiella fluorescent transposon mutants as well as the automated identification and analysis of the resulting internalization, replication and cytotoxic phenotypes.

Phase-Contrast Microscopy for Evaluating Developmental Mutants in Streptomyces

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2025

Source: Bennett, J. A. et al. Visual and Microscopic Evaluation of Streptomyces Developmental Mutants. J. Vis. Exp. (2018)This video demonstrates the use of phase-contrast microscopy to examine phenotypic differences between wild-type and mutant Streptomyces coelicolor. It outlines the steps involved in preparing and imaging aerial filaments to detect developmental defects in spore formation.

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

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Cited by 415 •

2010

We describe a protocol for the rapid and sensitive quantification of disease severity in mouse models of cerebellar ataxia. Measures include hind limb clasping, ledge test, gait and kyphosis. This protocol effectively discriminates between affected and non-affected individuals, and detects the progression of affected individuals over time.

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