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

adipose tissue

increased total body fat amount ( J:211773 )

IMPC - JAX

behavior/neurological

impaired righting response ( J:211773 )

IMPC - JAX

limb grasping ( 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

integument

abnormal coat/hair pigmentation ( J:211773 )

IMPC - JAX

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

pigmentation

abnormal coat/hair pigmentation ( J:211773 )

IMPC - JAX

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)
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