All Phenotypes Phkb<em1(IMPC)J> MGI Mouse

adipose tissue

increased total body fat amount ( J:211773 )

IMPC - JAX

growth/size/body

decreased lean body mass ( J:211773 )

IMPC - JAX

enlarged liver ( J:330539 )

increased liver weight ( J:330539 )

• elevation in liver weight/body weight percentage

• however, body weight is normal

homeostasis/metabolism

increased blood uric acid level ( J:330539 )

• mice show elevated blood uric acid levels after 6 hours of fasting

decreased circulating glucose level ( J:330539 )

• mice show reduced baseline blood glucose levels

decreased fasting circulating glucose level ( J:330539 )

• mice maintain reduced blood glucose levels during fasting, however severe hypoglycemia does not develop

increased circulating ketone body level ( J:330539 )

• concentration of the ketone body, beta-hydroxybuterate, is elevated at baseline and at all fasting intervals (2-8 hours)

increased circulating triglyceride level ( J:330539 )

• blood level of triglyceride is slightly elevated and significantly elevated at 6 hours of fasting

enhanced gluconeogenesis ( J:330539 )

• in a pyruvate tolerance test, mice show a 71% increase of blood glucose through 60 minutes after pyruvate injection, after which, glucose begins to gradually decrease over the last 60 min compared to a 63% increase in wild-type mice and a gradual decrease in blood glucose after 30 min post injection, indicating increased sensitivity to pyruvate and suggesting that gluconeogenesis may be upregulated in a fasted state

decreased glycogen catabolism rate ( J:330539 )

• mice show limited glycogenolytic ability to utilize excessive glycogen stores during prolonged fasting, with non-fasted and 2 hour-fasted mice showing higher accumulation of glycogen in the liver

• however, 6-hour fasted livers show decreased hepatic glycogen which corresponds to an inversely related increase in hepatic glucose levels

increased liver glycogen level ( J:330539 )

• non-fasted and 2 hour-fasted mice show higher accumulation of glycogen in the liver

decreased liver triglyceride level ( J:330539 )

• low level of hepatic triglyceride level

abnormal enzyme/coenzyme activity ( J:330539 )

• mice show reduced hepatic glycogen phosphorylase activity, with mice having 38% of wild-type activity

• mice show reduced glycogen phosphorylase activity in muscle

• however, mice do not show significant increases in serum alanine transaminase or aspartate transaminase levels

abnormal lipid metabolism ( J:330539 )

• gene expression analysis shows increased lipid metabolism

liver/biliary system

abnormal liver morphology ( J:330539 )

• extensive hepatocellular vacuolar change

• aged mice show minimal to mild collagen deposition in perisinusoidal, perisubscapular, and periportal areas of the liver

• mice express a mild profibrogenic phenotype, with increased mRNA levels of Ctgf at 2 hours of fasting and Col1a1 at nonfasted time points

enlarged liver ( J:330539 )

increased liver weight ( J:330539 )

• elevation in liver weight/body weight percentage

• however, body weight is normal

increased liver glycogen level ( J:330539 )

• non-fasted and 2 hour-fasted mice show higher accumulation of glycogen in the liver

decreased liver triglyceride level ( J:330539 )

• low level of hepatic triglyceride level

vision/eye

abnormal lens morphology ( J:211773 )

IMPC - JAX

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glycogen storage disease IXb		DOID:0111041	OMIM:261750	J:330539

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23