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Lanceolate hair-J (lahJ): a mouse model for human hair disorders
J P Sundberg1, D Boggess, C Bascom
1The Jackson Laboratory, Bar Harbor, Maine 04609-1500, USA. jps@jax.org
Abstract:
Lanceolate hair-J (lahJ) arose spontaneously in 1994 on the DBA/1LacJ inbred background at The Jackson Laboratory. Mutant mice were runted, alopecic, and lacked vibrissae. As they aged, their skin wrinkled. Affected mice developed a noninflammatory, proliferative skin disease with follicular dystrophy. Hair fibers developed a number of abnormalities including periodic nodules along the shaft (trichorrhexis nodosa), compaction resembling trichorrhexis invaginata, spiral fractures, broken tips, and lance-shaped tips. This mutation exhibits some characteristics that resemble an autosomal recessive ichthyosiform disease that occurs in humans characterized in part by peculiar, invaginating, multinodal, hair shaft abnormalities known as Netherton's syndrome. Periodic nodules also resemble the human genetic based disease monilethrix. This autosomal recessive mouse mutation, allelic with lanceolate hair (lah), based on breeding studies, is located on mouse Chromosome 18, within a cluster of genes coding for adhesion molecules. Homozygotes for either of these allelic mouse mutations have elevated serum IgE levels, a feature also common with human Netherton's syndrome.
Insights
A new mouse mutation, lanceolate hair-J (lahJ), causes hair shaft abnormalities and skin disease. This finding may offer insights into human genetic disorders like Netherton's syndrome and monilethrix.
Area of Science:
- Genetics
- Dermatology
- Developmental Biology
Background:
- The spontaneous mutation lanceolate hair-J (lahJ) arose in DBA/1LacJ mice.
- Mutant mice display runting, alopecia, and vibrissae loss, progressing to skin wrinkling and proliferative skin disease with follicular dystrophy.
Purpose of the Study:
- To characterize the phenotypic and genetic features of the lahJ mouse mutation.
- To investigate its potential as a model for human hair and skin disorders.
Main Methods:
- Phenotypic analysis of lahJ mice, including hair shaft morphology and skin condition.
- Genetic mapping to determine the chromosomal location of the mutation.
- Comparison of lahJ phenotype with human genetic diseases.
Main Results:
- Hair fibers exhibit abnormalities such as trichorrhexis nodosa, trichorrhexis invaginata-like compaction, spiral fractures, and lance-shaped tips.
- The mutation is an autosomal recessive trait located on mouse Chromosome 18, allelic with lah.
- Homozygotes show elevated serum IgE levels, similar to human Netherton's syndrome.
Conclusions:
- The lahJ mutation serves as a valuable mouse model for studying hair shaft abnormalities and related skin conditions.
- Its genetic linkage and phenotypic similarities suggest relevance for understanding human ichthyosiform diseases, Netherton's syndrome, and monilethrix.
- Elevated IgE levels in lahJ homozygotes highlight a shared characteristic with human Netherton's syndrome, warranting further investigation.