Phenotypes Associated with This Genotype

Genotype
MGI:3809774

• Allelic Composition: Psmc1^tm1Maye/Psmc1^tm1Maye; Th^tm1(cre)Te/Th⁺
• Genetic Background: involves: 129X1/SvJ * CD-1

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

mortality/aging

postnatal lethality, complete penetrance ( J:138991 )

• die before day 28

growth/size/body

decreased body size ( J:138991 )

• progressively runty from approximately day 14

nervous system

gliosis ( J:138991 )

• extensive gliosis as a result of the neuronal damage

neuron degeneration ( J:138991 )

• progressive degeneration and consequent loss of neuronal projections to the basal ganglia

alpha-synuclein inclusion body ( J:138991 )

• numerous eosinophilic intraneuronal paranuclear inclusions, containing ubiquitin, alpha-synuclein, and p62, similar to Lewy bodies in nigral neurons

homeostasis/metabolism

decreased dopamine level ( J:138991 )

• decreased dopamine and norepinephrine in the striatum and hypothalamus

abnormal noradrenaline level ( J:138991 )

• decreased dopamine and norepinephrine in the striatum and hypothalamus

• decreased norepinephrine in the hippocampus and brainstem