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Largevls
Spontaneous Allele Detail
Nomenclature
Symbol: Largevls
Name: like-glycosyltransferase; veils
MGI ID: MGI:3510641
Synonyms: Largemyd-2J
Gene: Large  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 for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Large Mutation:  91 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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory