Phenotypes Associated with This Genotype

Genotype
MGI:5529680

• Allelic Composition: Rps6ka3^tm1.1Kry/Rps6ka3^tm1.1Kry
• Genetic Background: B6.129X1(Cg)-Rps6ka3^tm1.1Kry

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

behavior/neurological

abnormal associative learning ( J:201540 )

• although mutants exhibit normal cued or contextual fear memory retention 24 hours after learning in the trace fear conditioning paradigm, mutants exhibit less freezing than wild-type mice in response to the tone-conditioned stimulus, indicating impaired long-term retention of trace fear memory

abnormal contextual conditioning behavior ( J:201540 )

• mutants exhibit a mild impairment of reconsolidation of a previously established contextual fear memory

nervous system

abnormal dendritic spine morphology ( J:201540 )

• dentate gyrus exhibits altered dendritic spine morphology, showing larger-headed spines with thick necks

abnormal synapse morphology ( J:201540 )

• dentate gyrus exhibits altered excitatory synapse morphology, showing an increase in size of both spine necks and synapse postsynaptic density

abnormal postsynaptic density morphology ( J:201540 )

• dentate gyrus exhibits altered excitatory synapse morphology, showing an increase in size of both spine necks and synapse postsynaptic density

abnormal CNS synaptic transmission ( J:201540 )

• mutants exhibit reduced basic synaptic transmission in the dentate gyrus

• spike facilitation by paired-pulses occurs at longer inter-stimulus interval in mutants than in wild-type mice and the amplitude of spike facilitation at long inter-stimulus intervals is decreased suggesting decreased network excitability in the dentate gyrus

• however, mutants show normal long-term potentiation (LTP), post-tetanic potentiation (PTP), and short-term potentiation (STP) in the dentate gyrus

short excitatory postsynaptic current decay time ( J:201540 )

• decay time constants of both AMPA and NMDA excitatory postsynaptic currents (EPSCs) are reduced in granule cells

abnormal excitatory postsynaptic potential ( J:201540 )

• reduction of the field excitatory postsynaptic potential (fEPSP) slope across stimulus intensities (with a 16.5% reduction of fEPSPs at maximal test intensity of 600 uA) in the dentate gyrus indicating decreased synaptic transmission

• however, short-term postsynaptic plasticity is normal suggesting that the reduction in synaptic transmission is most likely due to a postsynaptic impairment in synaptic function and/or a reduction in the number of functional synapses

reduced AMPA-mediated synaptic currents ( J:201540 )

• mutants exhibit decreased AMPA-mediated synaptic transmission at MPP-granule cell synapses and decreased NMDA/AMPA ratio

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Coffin-Lowry syndrome		DOID:3783	OMIM:303600	J:201540