Gck^tm1Ydor
Targeted Allele Detail

Summary

• Symbol: Gck^tm1Ydor
• Name: glucokinase; targeted mutation 1, Yuval Dor
• MGI ID: MGI:6690662
• Synonyms: mutGCK
• Gene: Gck Location: Chr11:5850820-5900081 bp, - strand Genetic Position: Chr11, 3.88 cM
• Alliance: Gck^tm1Ydor page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:302600
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutation: Insertion
• Mutation details: The targeting vector contains a mutated exon 10, in which three nucleotides CGG were introduced into amino acid 454 resulting in the insertion of an alanine at this position, followed by IRES-AcGFP immediately downstream to the native exon 10, which was flanked by loxP sites and an FRT-flanked neomycin gene. The cassette was inserted distal to exon 9. Upon cre-mediated recombination, the native exon 10 is removed and the mutant exon 10 is expressed. The ins454A activating mutation has been identified in a glucokinase mutation mediated congenital hyperinsulinism patient and it increases GCK affinity for glucose resulting in a decreased threshold for glucose-stimulated insulin secretion. Although AcGFP mRNA expression is detected, AcGFP protein is not. (J:302600)

Disease models

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 Gck Mutation: 69 strains or lines available

References

• Original: J:302600 Tornovsky-Babeay S, et al., Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes. Diabetologia. 2021 Feb 9
• All: 2 reference(s)