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Symbol
Name
ID
Pdss2
prenyl (solanesyl) diphosphate synthase, subunit 2
MGI:1918615
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Focal T2 hyperintense basal ganglia lesion
Bilateral tonic-clonic seizure with focal onset
Focal motor status epilepticus
Disease(s) Associated with PDSS2
primary coenzyme Q10 deficiency 3

Mouse Phenotypes
increased neuron apoptosis
abnormal radial glial cell morphology
decreased radial glial cell number
abnormal Purkinje cell migration
abnormal cerebellum development
abnormal cerebellar foliation
decreased midbrain size
midbrain hypoplasia
abnormal cerebellum morphology
absent Purkinje cell layer
cerebellum vermis hypoplasia
small cerebellum
cerebellum hypoplasia
abnormal embryonic/fetal subventricular zone morphology
Availability Mouse Genotype
Pdss2tm1.1Jdhu/Pdss2tm1.2Jdhu
Tg(Pax2-cre)1Akg/0  (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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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory