Gbe1^m1Yty
Chemically induced Allele Detail

Summary

• Symbol: Gbe1^m1Yty
• Name: 1,4-alpha-glucan branching enzyme 1; mutation 1, Yu-Ting Yan
• MGI ID: MGI:4868492
• Synonyms: Gbe1^E609X
• Gene: Gbe1 Location: Chr16:70110837-70366604 bp, + strand Genetic Position: Chr16, 40.19 cM, cytoband C2
• Alliance: Gbe1^m1Yty page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a G to T transition that resulted in the amino acid substitution of a stop codon for glutamic acid at position 609 (E609X). (J:167233)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Gbe1 Mutation: 47 strains or lines available

References

• Original: J:167233 Lee YC, et al., Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Hum Mol Genet. 2011 Feb 1;20(3):455-65
• All: 2 reference(s)