Large1 (LARGE xylosyl- and glucuronyltransferase 1) encodes a glycosyltransferase and is involved in glycosylation of alpha-dystroglycan. Mutations in Large1 are associated with MDC1D, a form of congenital muscular dystrophy with severe cognitive disability and abnormal glycosylation of alpha-dystroglycan. This spontaneous mutation, vls (veils), was identified as a deletion of exons 3-5 causing a frameshift and premature stop codon. Mice were first identified as runted with muscle wasting. Initial fundus examination of homozygous mice revealed bilateral pigmented or non-pigmented vitreal masses. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. Homozygote mice exhibit extensive ocular abnormalities including: retinal dysplasia, a disorganized ganglion cell layer, thinning of the inner nuclear layer, a progressive diminution of photoreceptor cells with aging, as well as, defects in the inner limiting membrane and outer plexiform layer. This strain may be useful for studying congenital muscular dystrophies with cardiomyopathy and retinal disease.

Mice homozygous for the veils (Largevls) allele appear runted with muscle wasting. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. In addition, homozygous mice exhibit extensive ocular abnormalities. This strain may be useful for studying congenital muscular dystrophies with cardiomyopathy and retinal disease.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.