Phenotypes Associated with This Genotype

Genotype
MGI:3817230

• Allelic Composition: Mecp2^tm1.1Bird/Y
• Genetic Background: involves: 129P2/OlaHsd

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

nervous system

nervous system phenotype ( J:126964 )

♂N • no alteration in synaptic release probability is detected in neurons

decreased CNS synapse formation ( J:126964 )

♂ • in vitro, density of synaptic markers is reduced by 39%

♂ • in vivo, at 2 weeks postnatal, number of glutamatergic synapses is reduced by 19%; by 5 weeks, difference is no longer significant

abnormal synaptic vesicle number ( J:126964 )

♂ • neurons exhibit a 41% reduction in RRP charge relative to wild-type

abnormal nervous system physiology ( J:235553 )

♂ • neurospecific isoforms of lysine (K)-specific demethylase 1A (KDM1A, also known as LSD1) are significantly upregulated in the hippocampus, cerebellum and cortex, along with a corresponding decrease in the ubiquitous KDM1A isoforms, suggesting that NOVA1-mediated upregulation of neurospecific KDM1A isoforms could be causally linked to hyperexcitability

abnormal hippocampus physiology ( J:235553 )

♂ • at P40, hippocampal NOVA1 (neuro-oncological ventral antigen 1) mRNA and protein levels are significantly upregulated relative to those in wild-type controls

decreased excitatory postsynaptic current amplitude ( J:126964 )

♂ • evoked EPSC amplitudes show a 46% reduction compared to wild-type

decreased miniature excitatory postsynaptic current frequency ( J:126964 )

♂ • mEPSCs show a significant decrease in frequency compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:235553