Phenotypes Associated with This Genotype

Genotype
MGI:6488226

• Allelic Composition: Btbd9^{tm1d(EUCOMM)Wtsi}/Btbd9^{tm1d(EUCOMM)Wtsi}
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N
• Cell Lines: EPD0631_3_A09

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

behavior/neurological

impaired coordination ( J:282582 )

• mice show decreased latency to fall in the rotarod test and have a 228% increase of slips in the beam walking test

nervous system

abnormal Purkinje cell morphology ( J:298663 )

• mice show an increase in the percentage of non-tonic Purkinje cells

decreased Purkinje cell size ( J:298663 )

• Purkinje cells exhibit decreased capacitance indicating that they are smaller in size

abnormal nervous system electrophysiology ( J:298663 )

• spontaneous activity of tonic Purkinje cells is increased

• tonic Purkinje cells exhibit a higher intrinsic excitability compared to controls

• however, Purkinje cells show no changes in the membrane potential and resistance

abnormal synaptic plasticity ( J:282582 )

• electrophysiological recordings show enhanced short-term plasticity at the corticostriatal terminals to D1 medium spiny neurons

enhanced paired-pulse facilitation ( J:282582 )

• mice show increased paired-pulse facilitation from D1 medium spiny neurons

• although no change in postsynaptic sEPSC of D1 medium spiny neurons is seen, mice show higher membrane resistance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restless legs syndrome		DOID:0050425	OMIM:PS102300	J:282582