Phenotypes Associated with This Genotype

Genotype
MGI:4941778

• Allelic Composition: Slc6a8^tm1.2Clar/Y
• Genetic Background: involves: BALB/cJ * C57BL/6 * C57BL/6J * SJL

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

behavior/neurological

behavior/neurological phenotype ( J:169472 )

♂N • mice exhibit normal rearing, social preference, acoustic startle, and prepulse inhibition

impaired contextual conditioning behavior ( J:169472 )

♂ • following contextual fear conditioning, mice exhibit reduced freezing compared with wild-type mice

♂ • however, cued fear conditioning is normal

impaired short-term object recognition memory ( J:169472 )

♂ • mice spend less time attending a novel object in a short-term novel object recognition test compared with wild-type mice

abnormal spatial learning ( J:169472 )

♂ • mice exhibit longer latency to finding a visible platform in a Morris water maze likely due to decreased swim speed compared with wild-type mice

impaired swimming ( J:169472 )

♂ • mice exhibit longer latency to finding a visible platform in a Morris water maze likely due to decreased swim speed compared with wild-type mice

decreased locomotor activity ( J:169472 )

♂ • during the first 5 minutes in a novel environment

hyperactivity ( J:169472 )

♂ • mice exhibit an increase in activity along the periphery of a novel environment compared with wild-type mice

homeostasis/metabolism

decreased creatine level ( J:169472 )

♂ • in the brain, muscle, heart, testes, and serum

♂ • however, kidney levels are normal

decreased circulating creatine level ( J:169472 )

♂

increased serotonin level ( J:169472 )

♂ • in the prefrontal cortex, hippocampus, and neostriatum

growth/size/body

decreased body weight ( J:169472 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebral creatine deficiency syndrome 1		DOID:0050800	OMIM:300352	J:169472