Large1<myd> Spontaneous Allele Detail MGI Mouse (MGI:1856965)

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Large1^myd
Spontaneous Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Large1^myd
Name:	LARGE xylosyl- and glucuronyltransferase 1; myodystrophy
MGI ID:	MGI:1856965
Synonyms:	fg, froggy, Large^myd, myd
Gene:	Large1 Location: Chr8:73541227-74080164 bp, - strand Genetic Position: Chr8, 35.08 cM, cytoband C1
Alliance:	Large1^myd page

Mutation
origin

Strain of Origin:

STOCK Edn3^ls

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: The 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

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

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 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:	123 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:	56 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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