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Symbol
Name
ID

Psmc1
protease (prosome, macropain) 26S subunit, ATPase 1
MGI:106054

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Microcephaly	Absent patellar reflexes	Spastic tetraplegia	Chorea	Absent speech	Intellectual disability, severe	Inability to walk
Disease(s) Associated with PSMC1
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Mouse Phenotypes		increased neuron apoptosis	enlarged brain ventricles	loss of cortex neurons	thin cerebral cortex	forebrain atrophy	gliosis	neuron degeneration	alpha-synuclein inclusion body	neurodegeneration
Availability	Mouse Genotype	increased neuron apoptosis	enlarged brain ventricles	loss of cortex neurons	thin cerebral cortex	forebrain atrophy	gliosis	neuron degeneration	alpha-synuclein inclusion body	neurodegeneration
	Psmc1^tm1Maye/Psmc1^tm1Maye Tg(Camk2a-tTA)1Mmay/0 Tg(tetO-cre)1Lin/0 (conditional)
	Psmc1^tm1Maye/Psmc1^tm1Maye Th^tm1(cre)Te/Th⁺ (conditional)
	Psmc1^tm1Maye/Psmc1^tm1.1Maye Th^tm1(cre)Te/Th⁺ (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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