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

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

Strain of Origin:

STOCK Edn3ls

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

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

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	14 anatomical structure(s)

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

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)