Phenotypes Associated with This Genotype

Genotype
MGI:4867515

• Allelic Composition: Tg(DYRK1A)36Wjs/0
• Genetic Background: involves: C57BL/6NCrjBgi

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

behavior/neurological

abnormal spatial reference memory ( J:111293 )

• in the Morris water maze with hidden platform, mutants do not show any improvement in finding the hidden platform during training, even after repeated training for 8 days, indicating severe spatial memory impairment

• in probe trials, where the platform was removed after the 4th, 6th, and 8th day of training, mutants do not show any improvement with training, indicating that mice do not learn the location of the platform

abnormal motor coordination/balance ( J:111293 )

• mutants show a slight delay in balancing during rotarod training at the first trial but they maintain their balance in subsequent training sessions

• however, no other motor abnormalities are apparent

nervous system

abnormal neuron proliferation ( J:166796 )

• embryonic neocortical neuronal cells at E14.5 exhibit impaired proliferation

abnormal neuronal precursor proliferation ( J:166796 )

• primary cortical neural stem cell precursors from E12.5 embryos exhibit impaired proliferation

increased brain weight ( J:111293 )

• 19% increase in brain weight at 9 weeks of age, however body weights were no different from controls

impaired synaptic plasticity ( J:111293 )

• altered bidirectional synaptic plasticity, with a shift in plasticity toward a greater induction of long term potentiation (LTP) and a lesser induction of long term depression (LTD)

• basal synaptic transmission is normal

enhanced long-term potentiation ( J:111293 )

• theta-burst stimulation at 100 Hz yields a greater increase in LTP than in controls

• stimulation at an intermediate frequency of 900 pulses at 10 Hz produces a modest enhancement of potentiation compared to controls

abnormal long-term depression ( J:111293 )

• magnitude of the LTD measured for 65 minutes after conditioning is higher than in controls

reduced long-term depression ( J:111293 )

• LTD at paired-pulse low frequency stimulation is reduced in hippocampal slices

cellular

abnormal neuron proliferation ( J:166796 )

• embryonic neocortical neuronal cells at E14.5 exhibit impaired proliferation

abnormal neuronal precursor proliferation ( J:166796 )

• primary cortical neural stem cell precursors from E12.5 embryos exhibit impaired proliferation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:111293