Related Experiment Video

Updated: May 18, 2026

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis
07:40

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media

Fengchan Han1, Heping Yu, Ping Li

  • 1The Transformative Otology and Neuroscience Center, Binzhou Medical University, Yantai, Shandong, People's Republic of China.

Plos One
|October 3, 2012
PubMed

Insights

A mutation in the Phex gene causes otitis media (OM) in mice, leading to middle ear inflammation and infection. This genetic model reveals Phex mutation

Area of Science:

  • Genetics
  • Immunology
  • Otolaryngology

Background:

  • Genetic susceptibility to otitis media (OM) is not well understood.
  • Otitis media is a common childhood infection affecting the middle ear.

Purpose of the Study:

  • To investigate the genetic basis of otitis media using a novel mouse model.
  • To elucidate the molecular mechanisms underlying Phex gene-associated OM.

Main Methods:

  • Utilized BALB/c-Phex(Hyp-Duk)/Y (Hyp-Duk/Y) mice with a Phex gene mutation.
  • Analyzed middle ear tissues for histopathological changes and gene expression.
  • Employed immunohistochemistry (IHC) to assess protein expression levels.

Main Results:

  • Hyp-Duk/Y mice developed OM with 73% penetrance starting at post-natal day 21.
  • OM was characterized by middle ear effusion, mucosal thickening, goblet cell increase, and ciliary deformity.
  • Upregulated transcription of inflammatory genes (Tlr2, Tlr4, Nfkb1, Il1b, Tnfα) and elevated FGF23 mRNA levels were observed.
  • EP2 receptor mRNA levels increased prior to OM onset, suggesting PGE2 involvement.

Conclusions:

  • Phex mutation leads to OM in mice through FGF23-mediated pathways, affecting middle ear mucosal defense.
  • The Hyp-Duk/Y mouse serves as a new genetic model for studying otitis media.
  • Early intervention strategies targeting PGE2 pathways may be beneficial for OM prevention.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Chronic Salmonella Infected Mouse Model09:01

Chronic Salmonella Infected Mouse Model

Published on: May 31, 2010

Related Concept Videos

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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.
Dosage Compensation02:50

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will have...