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Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene
Kenneth R Johnson1, Priscilla W Lane, Susan A Cook
1The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. krj@jax.org
Abstract:
In the outcrossing of a new recessive mouse mutation causing hair loss, a new wavy-coated phenotype appeared. The two distinct phenotypes were shown to be alternative manifestations of the same gene mutation and attributable to a single modifier locus. The new mutation, curly bare (cub), was mapped to distal Chr 11 and the modifier (mcub) was mapped to Chr 5. When homozygous for the recessive mcub allele, cub/cub mice appear hairless. A single copy of the dominant Mcub allele confers a full, curly coat in cub/cub mice. Reciprocal transfer of full-thickness skin grafts between mutant and control animals showed that the skin phenotype was tissue autonomous. The hairless cub/cub mcub/mcub mice show normal contact sensitivity responses to oxazolone. The similarity of the wavy coat phenotype to those of Tgfa and Egfr mutations and the map positions of cub and mcub suggest candidate genes that interact in the EGF receptor signal transduction pathway.
Insights
A new mouse mutation, curly bare (cub), causes hair loss and a wavy coat, influenced by a modifier gene (mcub). The mcub gene controls coat type in cub/cub mice, with different alleles determining hairlessness or a curly coat.
Area of Science:
- Genetics
- Developmental Biology
- Dermatology
Background:
- Mouse models are crucial for understanding gene function in mammalian development.
- Hair follicle development is a complex process regulated by numerous genes.
Purpose of the Study:
- To characterize a novel mouse mutation affecting coat phenotype.
- To identify and map the genes responsible for hair loss and coat texture variations.
Main Methods:
- Genetic mapping of the curly bare (cub) mutation and its modifier locus (mcub).
- Phenotypic analysis of mice with different genotypes.
- Reciprocal skin grafting experiments to assess tissue autonomy.
Main Results:
- A new mutation, curly bare (cub), was identified, exhibiting hair loss.
- A modifier locus, mcub, on Chr 5 was found to regulate the cub phenotype, determining hairlessness or a curly coat.
- Skin grafts confirmed the phenotype is tissue-autonomous.
Conclusions:
- The curly bare (cub) mutation and its modifier locus (mcub) represent a single gene mutation with alternative manifestations.
- The findings suggest potential interactions within the EGF receptor signaling pathway, implicating Tgfa and Egfr as candidate genes.
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