|  Help  |  About  |  Contact Us

Allele : Gck<tm1Ydor> glucokinase; targeted mutation 1, Yuval Dor

Primary Identifier  MGI:6690662 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence Gene  Gck
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • mutGCK,
  • mutGCK
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories