Phenotypes Associated with This Genotype

Genotype
MGI:6197218

• Allelic Composition: Slc6a8^{tm1e(KOMP)Wtsi}/Y
• Genetic Background: involves: C57BL/6J * C57BL/6N

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

behavior/neurological

abnormal motor learning ( J:264220 )

♂ • in the rotarod test, mice show decreased motor learning and performance during subsequent trials after the first trial

decreased grip strength ( J:264220 )

♂ • grip strength is severely reduced to about 15% of controls

decreased aerobic running capacity ( J:264220 )

♂ • running distance is reduced indicating reduced running endurance

growth/size/body

decreased body mass index ( J:264220 )

♂

increased lean body mass ( J:264220 )

♂ • mice are lean

decreased body weight ( J:264220 )

♂ • mice show consistently lower body weight from 5 weeks of age

decreased body length ( J:264220 )

♂ • mice are short

homeostasis/metabolism

decreased aerobic running capacity ( J:264220 )

♂ • running distance is reduced indicating reduced running endurance

decreased creatine level ( J:264220 )

♂ • 10-fold reduction in creatine levels in heart and skeletal muscle and about 70% reduction in cerebral levels

♂ • mice show a reduction of phosphocreatine in skeletal muscle, with a 40-fold reduction in skeletal muscle

♂ • however, no difference in kidney creatine levels

decreased circulating glucose level ( J:264220 )

♂ • fasted and fed blood glucose levels are decreased

decreased fasting circulating glucose level ( J:264220 )

♂

improved glucose tolerance ( J:264220 )

♂ • glucose tolerance test show faster glucose clearance after normalization to fasted blood glucose levels

♂ • mice show faster glucose clearance in muscle

abnormal ion homeostasis ( J:264220 )

♂ • inorganic phosphate tissue concentration in skeletal muscle is increased 3-fold

abnormal enzyme/coenzyme activity ( J:264220 )

♂ • citrate synthase activity is increased in extensor digitorum longus and soleus muscle

muscle

abnormal muscle morphology ( J:264220 )

♂ • mice exhibit reduced cross-sectional area of the hind leg muscle and of myocytes

skeletal muscle fiber atrophy ( J:264220 )

♂ • single fiber atrophy in the extensor digitorum longus muscle

abnormal muscle physiology ( J:264220 )

♂ • mice exhibit altered muscle energy metabolism, with reduced phosophocreatine, decreased ATP/inorganic phosphate levels despite increased inorganic phosphate to ATP flux, and more than 40% decrease in ATP levels in the hind limb

hypotonia ( J:264220 )

♂ • severe muscle hypotonia

muscle weakness ( J:264220 )

♂ • on the pole test, mice are not capable of turning upside down

skeleton

kyphosis ( J:264220 )

♂ • thoracolumbar kyphosis

kyphoscoliosis ( J:264220 )

♂ • severe kyphoscoliosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebral creatine deficiency syndrome 1		DOID:0050800	OMIM:300352	J:264220