Gys2^tm1.1Arte
Targeted Allele Detail

Summary

• Symbol: Gys2^tm1.1Arte
• Name: glycogen synthase 2; targeted mutation 1.1, TaconicArtemis
• MGI ID: MGI:5568615
• Synonyms: GYS2^R582A
• Gene: Gys2 Location: Chr6:142368339-142418835 bp, - strand Genetic Position: Chr6, 74.04 cM
• Alliance: Gys2^tm1.1Arte page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:208923
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Single point mutation
• Mutation details: An FRT-flanked puromycin resistance cassette was inserted upstream of a modified exon 14 in which a mutation results in the amino acid substitution of arginine with alanine at position 582 (p.R582A). This mutation results in a product that exhibits profoundly impaired activation by glucose-6-phosphate. However, regulation by reversible phosphorylation remains intact. Flp-mediated recombination removed the selection cassette. Western blot analysis confirmed reduced protein expression in the liver. (J:208923)

Expression

In Structures Affected by this Mutation:

2 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 Gys2 Mutation: 45 strains or lines available

References

• Original: J:208923 von Wilamowitz-Moellendorff A, et al., Glucose-6-phosphate-mediated activation of liver glycogen synthase plays a key role in hepatic glycogen synthesis. Diabetes. 2013 Dec;62(12):4070-82
• All: 1 reference(s)