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| Nomenclature |
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Symbol:
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Largevls
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Name:
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like-glycosyltransferase;
veils
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MGI ID: |
MGI:3510641 |
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Synonyms: |
Largemyd-2J |
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Gene:
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Large
Location:
Chr8:72814599-73353540 bp, - strand
Genetic Position: Chr8,
35.08 cM, cytoband C1
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Mutation
origin |
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Strain of Origin:
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CAST/Ei
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
