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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hmgcltm2Gam
targeted mutation 2, Grant A Mitchell
MGI:5538619
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Hmgcltm2Gam/Hmgcltm2Gam
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+ 		B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn MGI:5538628


Genotype
MGI:5538628
cn1
Allelic
Composition		 Hmgcltm2Gam/Hmgcltm2Gam
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background		 B6.Cg-Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hmgcltm2Gam mutation (0 available); any Hmgcl mutation (15 available)
Speer6-ps1Tg(Alb-cre)21Mgn mutation (6 available); any Speer6-ps1 mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

The leucine metabolite 2-ketoisocaproate induces liver steatosis in Hmgcltm2Gam/Hmgcltm2Gam Speer6-ps1Tg(Alb-cre)21Mgn/0 mice

mortality/aging
premature death ( J:204294 )
• all mice die between 3 and 5 weeks following spontaneous episodes, or crises, of progressive lethargy, hypoglycemia and hyperammonia
• however, mice fed a low protein diet plus 10% glucose in drinking water exhibit diminished occurrence of crises

homeostasis/metabolism
homeostasis/metabolism phenotype ( J:204294 )
N
• mice exhibit normal peroxisome-related metabolites
increased circulating carnitine level ( J:204294 )
• elevated levels of leucine-related metabolites in stressed mice (following injection of KIC or during spontaneous crises)
• increased plasma acylcarnities in stressed mice
increased circulating ammonia level ( J:204294 )
• before death
• in mice treated with the leucine metabolite 2-ketoisocaproate (KIC)
• however, hyperammonemia is improved by carglumate treatment
hypoglycemia ( J:204294 )
• before death
• in mice treated with the leucine metabolite 2-ketoisocaproate (KIC)
abnormal gluconeogenesis ( J:204294 )
• reduced gluconeogenesis in hepatocytes

liver/biliary system
abnormal hepatocyte physiology ( J:204294 )
• undetectable ketogenesis from octanoate in hepatocytes
• reduced gluconeogenesis in hepatocytes

behavior/neurological
lethargy ( J:204294 )
• progressive 1 to 4 hours before death

cellular




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Send questions and comments to User Support. 		last database update
08/02/2024
MGI 6.24 		The Jackson Laboratory