Related Experiment Video
Updated: Aug 9, 2026
10:09
Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration
Published on: February 28, 2013
Repeated epilation: a genetic epidermal syndrome in mice
The Journal of Heredity
|March 1, 1979
Summary
Repeated epilation (Er) is an autosomal semidominant mutation in mice causing irregular hair loss in heterozygotes. Homozygotes exhibit lethal respiratory distress and epidermal defects, highlighting its critical developmental role.
Area of Science:
- Genetics
- Developmental Biology
- Dermatology
Background:
- The mutation 'Repeated epilation' (Er) is identified on chromosome 4 in the house mouse.
- Autosomal semidominant mutations can significantly impact developmental processes and organismal health.
Purpose of the Study:
- To characterize the phenotypic effects of the Repeated epilation (Er) mutation in mice.
- To investigate the consequences of both heterozygous and homozygous states of the Er mutation.
Main Methods:
- Phenotypic analysis of mice carrying the Er mutation.
- Observation of developmental and survival outcomes in Er heterozygotes and homozygotes.
Main Results:
- Heterozygous Er mice display irregular hair loss.
- Homozygous Er mice experience perinatal lethality due to acute respiratory distress.
- Homozygous Er mice exhibit a hypoplastic epidermal syndrome with oral and limb morphological modifications.
Conclusions:
- The Repeated epilation (Er) mutation is essential for normal epidermal development and respiratory function in mice.
- Er acts as a semidominant lethal mutation with distinct phenotypes in heterozygotes and homozygotes.
Related Concept Videos
01:39Epistasis
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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,...
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:12Renewal of Skin Epidermal Stem Cells
The skin is divided into epidermis, dermis, and hypodermis, the skin's outermost, middle, and inner layers. The human epidermal layer regularly undergoes renewal, where old, dead cells are replaced by new cells. Epidermal stem cells or EpiSCs divide and differentiate to restore the lost cells. For the renewal process, some EpiSCs continuously self-renew. In contrast, few others differentiate into transit-amplifying cells, which later form prickle or spinous cells, followed by granular cells,...