Large1<vls> Spontaneous Allele Detail MGI Mouse (MGI:3510641)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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