B6.CAST(Cg)-Large1^vls/Pjn

Stock number: 005350
Research areas: Cardiovascular Research, Neurobiology Research, Sensorineural Research

Description

Mice homozygous for the veils (Large^vls) 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. 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.

Detailed description

Mice homozygous for the veils (Large^vls) 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. 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. (Lee Y, et al., 2005)

Development

The veils (vls) spontaneous mutation was first identified in the progeny of an F1 cross consisting of the progenitor strains CAST/Ei and a C57BL/6J congenic (N7) carrying the rd7 allele. The donor strain for the congenic was identified as 77-2C2a-special. (Lee Y, et al., 2005) A genome scan of F2 progeny indicated that the spontaneous mutation occurred in a CAST/Ei allele. This congenic has been backcrossed 10 times to C57BL/6J and does not carry the rd7 allele.

Allele

Symbol: Large1^vls
Name: veils
MGI accession ID: MGI:3510641
Generation method: Spontaneous
Marker symbol: Large1
Marker name: LARGE xylosyl- and glucuronyltransferase 1
Chromosome: 8
Strain of origin: CAST/Ei
Molecular note: Analysis of cDNA from mutant mice revealed a deletion of coding sequences corresponding to exons 3 to 5. This results in a frameshift after codon 35, creating a premature stop codon at position 37 and effectively deleting the coiled coil and catalytic domains from the encoded protein.