Germline Mutation

A germline mutation is a change in DNA that occurs in a germ cell or its precursor and can be transmitted to offspring, making it important for heredity, genetic disease, and evolution. These mutations arise through errors during DNA replication, failures in DNA repair, or exposure to mutagens, and become heritable when present in an egg, sperm, or their cellular lineage. Unlike somatic mutations, germline mutations can affect every cell of the developing organism and may alter gene function, chromosome structure, or reproductive fitness. Studying them supports genetic counseling, disease-risk assessment, population genetics, and research into how inherited variation shapes biological diversity.

Germline Mutation - Related Videos

Research

JoVE EoE - Gene Transfer Techniques

Mosquito Embryo Microinjection: A Technique to Deliver Exogenous DNA into Embryo Yolk of Anopheles Gambiae to Generate Germline Mutations

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2025

In this video, we demonstrate the delivery of gene drive construct into the embryo of Anopheles gambiae mosquito through embryo microinjection technique. This procedure allows for integration of delivered DNA construct, through homologous recombination, into the germline cells to generate transformed mosquito population.

CRISPR/Cas9-mediated Endogenous Fluorescent Tagging of Germline-specific Genes in Caenorhabditis elegans

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2026

A CRISPR/Cas9 microinjection workflow for endogenous fluorescent tagging in the Caenorhabditis elegans germline to obtain homozygous knock-in lines for in vivo protein localization analysis.

Comprehensive Assessment of Germline Chemical Toxicity Using the Nematode Caenorhabditis elegans

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Cited by 11 •

2015

We describe the detailed steps of a high-throughput chemical assay in the nematode Caenorhabditis elegans used to assess germline toxicity. In this assay, disruption of germline function following chemical exposure is monitored using a fluorescent reporter specific to aneuploid embryos.

Education

JoVE Core - Biology

Viral Mutations

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2019

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material for adaptive...

Gonad Microinjection: A Method of Compound Delivery Directly into the Germline of C. elegans

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2023

This video describes microinjection, a common method of creating transgenic C. elegans strains. In the example, we will see microinjection used to introduce a ribonucleoprotein (RNP) complex for CRISPR-bases gene editing.

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