Large1^vls
Spontaneous Allele Detail

Summary

• Symbol: Large1^vls
• Name: LARGE xylosyl- and glucuronyltransferase 1; veils
• MGI ID: MGI:3510641
• Synonyms: Large^myd-2J
• Gene: Large1 Location: Chr8:73541227-74080164 bp, - strand Genetic Position: Chr8, 35.08 cM, cytoband C1
• Alliance: Large1^vls page

Mutation origin

• Strain of Origin: CAST/Ei

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: 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. (J:100214)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Large1 Mutation: 123 strains or lines available

References

• Original: J:100214 Lee Y, et al., Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci. 2005 Oct;30(2):160-72
• All: 3 reference(s)