Related Experiment Video

Updated: Jun 2, 2026

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells
11:31

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells

Published on: April 2, 2016

Generation of mice with a novel conditional null allele of the Sox9 gene

Sook Peng Yap1, Xing Xing, Petra Kraus

  • 1Stem Cell and Developmental Biology, Genome Institute of Singapore, 60 Biopolis Street, Singapore. yaps@gis.a-star.edu.sg

Biotechnology Letters
|April 13, 2011
PubMed

Insights

Researchers created a conditional Sox9 allele (Sox9 flox/flox) enabling viable homozygous mice. This tool allows specific Sox9 gene ablation in cartilage, aiding studies on congenital diseases like Campomelic dysplasia.

Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • Sox9 is crucial for development and its mutations cause congenital diseases like Campomelic dysplasia.
  • Conventional Sox9 gene targeting in mice results in perinatal lethality, preventing homozygous null studies.

Purpose of the Study:

  • To generate a conditional Sox9 allele for in vivo functional studies.
  • To enable the study of Sox9 function in specific tissues, particularly cartilage.

Main Methods:

  • Generated a conditional Sox9 allele (Sox9 tm4.Tlu) by flanking exon 1 with loxP sites.
  • Utilized Cre-mediated recombination with a Col2a1-Cre mouse line to achieve tissue-specific gene ablation.

Main Results:

  • Homozygous Sox9 (flox/flox) mice are viable, fertile, and phenotypically normal, confirming the allele's functionality.
  • Cre-mediated recombination specifically ablated Sox9 activity in cartilage tissues.

Conclusions:

  • The conditional Sox9 (flox/flox) allele provides a valuable tool for studying Sox9 function in vivo.
  • This approach facilitates research into the role of Sox9 in skeletal development and related congenital disorders.

More Related Videos

Mouse Genome Engineering Using Designer Nucleases12:04

Mouse Genome Engineering Using Designer Nucleases

Published on: April 2, 2014

Generation of Maternal Mutants Using zpc:cas9 Knock-in Zebrafish09:17

Generation of Maternal Mutants Using zpc:cas9 Knock-in Zebrafish

Published on: July 22, 2025

Related Concept Videos

In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
Mouse Models of Cancer Study02:43

Mouse Models of Cancer Study

Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...