B6(D2)-Lmna^Dhe/TyGrsrJ

Stock number: 001934
Product name: disheveled hair and ears
Research areas: Dermatology Research, Developmental Biology Research, Internal/Organ Research, Neurobiology Research

Description

Lmna^Dhe 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.

Detailed description

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.

Development

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

Symbol: Lmna^Dhe
Name: disheveled hair and ears
MGI accession ID: MGI:3848037
Generation method: Spontaneous
Marker symbol: Lmna
Marker name: lamin A
Chromosome: 3
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.