Phenotypes Associated with This Genotype

Genotype
MGI:8472105

• Allelic Composition: Slc6a17^em2Bcgen/Slc6a17^em2Bcgen
• Genetic Background: C57BL/6J-Slc6a17^em2Bcgen

• ♀: 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 require more time to find the platform in both visible and hidden sessions 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 in the target quadrant and have fewer crossing through the platform area than controls, indicating impaired hippocampus-dependent spatial 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, and the other amino acids 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, and the other amino acids 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