Phenotypes associated with this allele

• Allele Symbol: Psmc1^tm1Maye
• Allele Name: targeted mutation 1, R John Mayer
• Allele ID: MGI:3809769
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Psmc1^tm1Maye/Psmc1^tm1Maye Tg(Camk2a-tTA)1Mmay/0 Tg(tetO-cre)1Lin/0	involves: 129 * C57BL/6 * CD-1	MGI:3809773
cn2	Psmc1^tm1Maye/Psmc1^tm1Maye Th^tm1(cre)Te/Th^+	involves: 129X1/SvJ * CD-1	MGI:3809774
cn3	Psmc1^tm1Maye/Psmc1^tm1.1Maye Th^tm1(cre)Te/Th^+	involves: 129X1/SvJ * CD-1	MGI:3809797

Genotype
MGI:3809773

cn1

• Allelic Composition: Psmc1^tm1Maye/Psmc1^tm1Maye; Tg(Camk2a-tTA)1Mmay/0; Tg(tetO-cre)1Lin/0
• Genetic Background: involves: 129 * C57BL/6 * CD-1

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

mortality/aging

premature death ( J:138991 )

• die at 3-4 months of age

growth/size/body

postnatal growth retardation ( J:138991 )

• subtle growth retardation starting 5 weeks of age and becoming statistically significant by 8 weeks

behavior/neurological

abnormal spatial learning ( J:138991 )

• obvious spatial learning deficits in the Morris water maze at 8 weeks

abnormal eating behavior ( J:138991 )

• lack interest in locating food at 3-4 months of age

abnormal fear/anxiety-related behavior ( J:138991 )

• significantly more anxious in open-field analysis at 6 weeks

nervous system

increased neuron apoptosis ( J:138991 )

enlarged brain ventricles ( J:138991 )

• expansion of the ventricular cavities accompanying atrophy of the forebrain

loss of cortex neurons ( J:138991 )

• extensive neuronal loss by 8 weeks

thin cerebral cortex ( J:138991 )

forebrain atrophy ( J:138991 )

• significant progressive atrophy of the forebrain

gliosis ( J:138991 )

• extensive gliosis as a result of the neuronal damage

alpha-synuclein inclusion body ( J:138991 )

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

neurodegeneration ( J:138991 )

• neurodegeneration was evident in neurons expressing Tg(Camk2a-tTA)1Mmay in forebrain, hippocampus, striatum, and amygdala

cellular

increased neuron apoptosis ( J:138991 )

Genotype
MGI:3809774

cn2

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

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

Genotype
MGI:3809797

cn3

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

mortality/aging

postnatal lethality ( J:138991 )

• phenotype is identical to the mouse having Psmc1^tm1Maye/Psmc1^tm1.1Maye; Th^tm1(cre)Te/Th⁺

growth/size/body

decreased body size ( J:138991 )

nervous system

gliosis ( J:138991 )

neuron degeneration ( J:138991 )

alpha-synuclein inclusion body ( J:138991 )

homeostasis/metabolism

decreased dopamine level ( J:138991 )

abnormal noradrenaline level ( J:138991 )