Large1^myd
Spontaneous Allele Detail

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

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: 55 reference(s)