Phenotypes Associated with This Genotype

Genotype
MGI:5911391

• Allelic Composition: Ts(16C-tel)1Cje/0
• Genetic Background: B6.Cg-Ts(16C-tel)1Cje

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

growth/size/body

decreased body weight ( J:294908 )

• 21-week old mice exhibit decreased body weight

behavior/neurological

abnormal long-term spatial reference memory ( J:294908 )

• mice show no differences from wild-type mice in the learning phase or in the probe trials of the Barns maze task, however mice do not discriminate the target hole from the two adjacent ones, indicating a deficit in spatial memory accuracy

increased locomotor activity ( J:294908 )

• mice travel longer distances than wild-type mice

decreased stereotypic behavior ( J:294908 )

• the number of stereotypic events (repetitive movements detected by laser sensors) is decreased, especially during the first 60 minutes of exploration

nervous system

abnormal nervous system electrophysiology ( J:294908 )

• while long-term potentiation induced by tetanic stimulation (100 Hz, 1 s) in the CA1 region of hippocampal slices is mostly intact, however depolarization during high-frequency stimulation (depolarization envelope) 950 ms after the first pulse of tetanic stimulation is smaller

• in the presence of the GABA(B)-receptor antagonist CGP55845, the difference in the depolarization envelope is canceled

abnormal GABA-mediated receptor currents ( J:294908 )

• GABA(B) receptor-mediated synaptic inhibition is enhanced, with a larger ratio of GABA(B)receptor-mediated IPSCs to AMPA receptor-mediated EPSCs (I/E ratio)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:294908