LmnaDhe is a semi-dominant spontaneous mutation that causes a sparse coat and small external ears in heterozygotes and lethality in homozygotes. Dhe mice should provide a useful model for investigations of the pathogenesis of laminopathies.Read More +
Heterozygotes are slightly smaller than normal and develop a sparse, graying, scruffy coat. They have short ear pinnae, an underdeveloped lower jaw, malocclusion, protruding eyes, and low bone mineral density. The skulls are small and disproportionate, and the cranial sutures fail to close. Females can have decreased fertility, but males do not. Males have diminished total body fat. Homozygotes die by approximately 10 days of age, have dysplastic, ulcerated skin and oral mucosae, and a more severe deficiency in skull growth and mineralization.
The disheveled hair and ears mutation arose spontaneously in 1989 in a C57BL/6J segment in the BXD8/Ty recombinant inbred strain in the laboratory of Dr. Benjamin Taylor at The Jackson Laboratory. Dr. Taylor backcrossed this mutation onto C57BL/6J and it was transferred to the Craniofacial Resource at The Jackson Laboratory in the year 2000 and continues to be maintained by backcrossing to C57BL/6J. This strain reached generation N52 in July 2010.
|Allele Name||disheveled hair and ears|
|Gene Symbol and Name||Lmna, lamin A|
|Strain of Origin||BXD8/TyJ|
|Molecular Note||A c.155T>G transversion is present in exon 1, leading to a missense mutation which substitutes a leucine with an arginine at amino acid 52 (p.L52R). This mutation is predicted to disrupt the coiled coil rod domain of the protein. Mapping data showed the mutation to have occurred within a C57BL/6J derived region of the BXD8/TyJ genome.|
Heterozygotes develop malocclusion and weekly trimming of the incisors is necessary to permit mastication.
When using the disheveled hair and ears mouse strain in a publication, please cite the originating article(s) and include JAX stock #001934 in your Materials and Methods section.