Phenotypes associated with this allele

• Allele Symbol: Pitx3^tm1.1Cai
• Allele Name: targeted mutation 1.1, Huaibin Cai
• Allele ID: MGI:5432011
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Pitx3^tm1.1Cai/Pitx3^+ Tg(tetO-SNCA*A53T)E2Cai/0	involves: 129 * C57BL/6J * FVB/N	MGI:5432013

Genotype
MGI:5432013

cx1

• Allelic Composition: Pitx3^tm1.1Cai/Pitx3⁺; Tg(tetO-SNCA*A53T)E2Cai/0
• Genetic Background: involves: 129 * C57BL/6J * FVB/N

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

nervous system

microgliosis ( J:185958 )

• at 20 months

astrocytosis ( J:185958 )

• at 20 months

abnormal dopaminergic neuron morphology ( J:185958 )

• at 1 month, midbrain dopamine (mDA) neurons exhibit enlarged axon terminals compared with control cells

• at 12 months, mDA neurons exhibit perturbations of the Golgi apparatus compared with control mice

loss of dopaminergic neurons ( J:185958 )

• progressive degeneration of midbrain dopamine neurons as early as 1 month

• however, there is no loss of midbrain dopamine neurons between 12 and 20 months and inhibition of Nurr1 (Nr4a2) ameliorates loss of neurons

abnormal neurite morphology ( J:185958 )

• at 12 months, neurites exhibit reduced length and complexity compared with control neurites

neuron degeneration ( J:185958 )

• progressive degeneration of midbrain dopamine neurons as early as 1 month

• however, there is no loss of midbrain dopamine neurons between 12 and 20 months

alpha-synuclein inclusion body ( J:185958 )

• in the soma and neurites of midbrain dopamine neurons at 12 and 18 months

abnormal neuron physiology ( J:185958 )

• midbrain dopamine neurons exhibit impaired

• autophagy/lysosomal pathways and ubiquitin proteasome system pathway compared with control cells

abnormal synaptic dopamine release ( J:185958 )

• severely impaired in the striatum

behavior/neurological

impaired coordination ( J:185958 )

• on a rotarod at 2 months

abnormal gait ( J:185958 )

• unsteady and shorter at 1 month

short stride length ( J:185958 )

• at 1 month

decreased vertical activity ( J:185958 )

• at 1 months

• however, mice fed doxycycline treatment rescues rearing impairment

decreased locomotor activity ( J:185958 )

• moderate starting at 2 months in an open field

cellular

abnormal autophagy ( J:185958 )

• impaired autophagy/lysosome pathways in midbrain dopamine neurons

growth/size/body

slow postnatal weight gain ( J:185958 )

• at 2 months

hematopoietic system

microgliosis ( J:185958 )

• at 20 months

homeostasis/metabolism

abnormal autophagy ( J:185958 )

• impaired autophagy/lysosome pathways in midbrain dopamine neurons

decreased dopamine level ( J:185958 )

• at 6 months in the striatum

immune system

microgliosis ( J:185958 )

• at 20 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:185958