About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3712364
Allelic
Composition
Pitx3ak/Pitx3ak
Genetic
Background
involves: 129S1/Sv * C57BL/6 * C57BLKS/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx3ak mutation (1 available); any Pitx3 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Nissl staining indicates that cell density is dramatically reduced in the substantia nigra pas compacta as compared to wild-type
• dopaminergic neurons remaining in the substantia nigra pars compacta appear atrophic with somewhat shrunken cell bodies
• results using both the key dopamine neuronal marker, TH, and Fluorogold retrograde labeling suggest the absence of dopaminergic neurons in the substantia nigra pas compacta indicating that nigrostriatal projections do not develop
• neuron loss is apparent in newborn mice
• results using the key dopamine neuronal marker, TH, suggest a reduction of neurons in the dorsal striatum, however, not in the nucleus accumbens or olfactory tubercle implying a defective nigrostriatal pathway
• selective loss of A9 dopaminergic neurons in the substantia nigra; A10 neurons in the ventral tegmental area appear to be intact

behavior/neurological
• mice exhibit longer times to traverse a balance beam challenge and a 25% increase in the number of steps as compared to controls, however, administration of L-DOPA reduced beam time and step number almost to wild-type levels
• in a vertical pole test, mice take longer than controls to orient downwards; L-DOPA administration reduces orientation time
• higher ambulatory activity than control during lights-on period, however, lower ambulatory activity than control during lights-off period
• mice exhibit a decrease in rearing and hindlimb stepping as measured in the transparent cylinder, however, administration of L-DOPA increases spontaneous activity to the same or higher than wildtype
• total horizontal movements during a 22 hour period are slightly increased over that of control

homeostasis/metabolism
• levels are reduced to 10% of wildtype in the dorsal striatum, however levels in the ventral striatum are not affected

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Parkinson's disease DOID:14330 OMIM:PS168600
J:98209


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory