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Large1vls
Spontaneous Allele Detail
Nomenclature
Symbol: Large1vls
Name: LARGE xylosyl- and glucuronyltransferase 1; veils
MGI ID: MGI:3510641
Synonyms: Largemyd-2J
Gene: Large1  Location: Chr8:72814599-73353540 bp, - strand  Genetic Position: Chr8, 35.08 cM, cytoband C1
Mutation
origin
Strain of Origin:  CAST/Ei
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsAnalysis 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Large1 Mutation:  107 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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory