Related Experiment Video
Updated: May 8, 2026
06:07
Isolation and Culture of Primary Cochlear Hair Cells from Neonatal Mice
Published on: September 15, 2023
Genetic deafness of central origin.
M S Deol1, M P Frank, K P Steel
1Department of Genetics and Biometry, University College London, Wolfson House, 4 Stephenson Way, London, NW1 2HE, UK.
Brain Research
|September 10, 2013
Summary
The quivering gene in mice causes genetic deafness originating in the central nervous system, not the cochlea. This study identifies a novel form of retrocochlear hearing loss.
Area of Science:
- Genetics
- Neuroscience
- Auditory Science
Background:
- Deafness can arise from various genetic factors affecting the auditory system.
- Understanding the origin of hearing loss is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate the cause of deafness in mice with the autosomal recessive quivering gene.
- To determine if the hearing impairment is cochlear or retrocochlear.
Main Methods:
- Histological examination of cochleae in mutant and normal mice.
- Measurement of auditory brainstem responses (ABRs) at the round window.
- Assessment of auditory evoked potentials in the inferior colliculus.
Main Results:
- Cochlear structures were histologically normal in quivering mice.
- Auditory thresholds at the round window were comparable between mutant and normal mice.
- Significantly elevated thresholds for inferior colliculus potentials were observed in mutant mice, indicating retrocochlear dysfunction.
Conclusions:
- The quivering mutation in mice leads to deafness of central nervous system origin.
- This represents the first documented case of genetically induced hearing loss originating centrally.
Related Concept Videos
01:11Genetic Lingo
Overview
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:33Pleiotropy
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,...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...