Phenotypes Associated with This Genotype

Genotype
MGI:8472103

• Allelic Composition: Slc6a17^em2Yrao/Slc6a17^em2Yrao
• Genetic Background: C57BL/6J-Slc6a17^em2Yrao

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

behavior/neurological

impaired contextual conditioning behavior ( J:344886 )

• mice exhibit a decrease in freezing behavior in contextual fear conditioning indicating that mice are deficient in contextual fear memory

impaired cued conditioning behavior ( J:344886 )

• mice exhibit a decrease in freezing behavior in cued fear conditioning indicating that mice are deficient in cued fear memory

impaired spatial learning ( J:344886 )

• in the Morris water maze, mice exhibit a longer latency to find the platform during training, indicating impaired hippocampus-dependent spatial learning

impaired spatial working memory ( J:344886 )

• during the probe trail of the Morris water maze, mice spend less time searching the platform quadrant and mice cross the platform area much less than controls, indicating impaired hippocampus-dependent spatial memory

• however, mice exhibit normal short-term memory

cellular

abnormal synaptic vesicle morphology ( J:344886 )

• synaptic vesicles isolated from the brain show reduced glutamine levels

• however, levels of transmitters such as glutamate, gamma-aminobutyric acid (GABA) and acetylcholine are not different in synaptic vesicles

homeostasis/metabolism

decreased glutamine level ( J:344886 )

• synaptic vesicles isolated from the brain show reduced glutamine levels

nervous system

abnormal synaptic vesicle morphology ( J:344886 )

• synaptic vesicles isolated from the brain show reduced glutamine levels

• however, levels of transmitters such as glutamate, gamma-aminobutyric acid (GABA) and acetylcholine are not different in synaptic vesicles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive intellectual developmental disorder 48		DOID:0081212	OMIM:616269	J:344886