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129S6.Cg-Gcktm3Mgn/Vu

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These mice, which contain an activating, A456V mutation within the Gck gene, provide a model for Persistant Hyperinsulinemic Hypoglycemia of Infancy, or PHHI-GK, a rare genetic disease of humans. 

During the generation of this line, male chimeric mice derived by injecting correctly targeted TL1 mESCs into blastocysts from C57Bl/6 animals were mated directly with 129S6 female mice, thereby maintaining the mutation in an inbred state. 

Cryostocks of both 8-cell embryos and sperm from this line exist only at the VCMR.  

Record History
Added on July 19, 2010 at 10:16 AM by Magnuson, Mark
Modified on September 4, 2019 at 12:39 PM by Skelton, Jennifer
Shared with (contributions)
Public: Shared Collection
VCMR: Vanderbilt Cryopreserved Mouse Repository
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Mouse Information

Common Name gkA456V
VCMR ID DE, DS
Date Cryopreserved 2004-11-08
Method of Cryopreservation Embryo

Genetic Alteration

Mutation #1: Targeted Mutagenesis
Allele Name: glucokinase; targeted mutation 3, Mark A Magnuson
Symbol: Gcktm3Mgn
MGI: MGI:3701764
Zygosity at cryopreservation Heterozygote
PCR Genotyping Protocol Gck.A456V_PCR_genotyping_protocol.docx
Citations
Publication
Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations. (2007) J Biol Chem 282: 13906-16 (Added 12/10/2013)
PMID: 17353190

Background Strain Information

Strain Type Congenic Strain
Chimera/Founder Genetic Background 129S6/SvEvTac
Cryopreservation Strain Background (VCMR) 129S6/SvEvTac
Viability and Fertility Data

Strain background:  Backcrossed >10 generations onto 129S6/SvEvTac.

Vial DE:  cryopreserved embryos at the 8-cell stage

Vial DS:  cryopreserved sperm in vials

Homozygous viable.

Heterozygous viable and fertile.

Neo cassette was not removed for 129S6 strain.

Attachments

Document gka456v.neo__wt_protocol.doc - Added on July 27, 2010 at 10:38 AM by Jill Lindner

PCR protocol for genotyping mice

Document K414EA456V_targeting_vector.jpg - Added on July 19, 2010 at 10:16 AM by Mark Magnuson

K414E and A456V targeting vectors