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Large1myd
Spontaneous Allele Detail
Summary
Symbol: Large1myd
Name: LARGE xylosyl- and glucuronyltransferase 1; myodystrophy
MGI ID: MGI:1856965
Synonyms: fg, froggy, Largemyd, myd
Gene: Large1  Location: Chr8:73541227-74080164 bp, - strand  Genetic Position: Chr8, 35.08 cM, cytoband C1
Alliance: Large1myd page
Mutation
origin
Strain of Origin:  STOCK Edn3ls
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe mutation underlying the myodystrophy phenotype has been determined to be an intragenic deletion in the glycotransferase gene, Large. The deletion of exons 5-7 cause a frameshift and a premature stop codon before the first two catalytic domains. (J:69796)
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 Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 16 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Large1 Mutation:  111 strains or lines available
References
Original:  J:5670 Lane PW, et al., Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered. 1976 May-Jun;67(3):135-8
All:  54 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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last database update
02/27/2024
MGI 6.23
The Jackson Laboratory