About   Help   FAQ
Symbol
Name
ID 		Pnkp
polynucleotide kinase 3'- phosphatase
MGI:1891698
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Progressive microcephaly
Oculomotor apraxia
Atrophy/Degeneration affecting the brainstem
Ventriculomegaly
Simplified gyral pattern
Hypoplasia of the corpus callosum
Cerebellar atrophy
Ataxia
Abnormal pyramidal sign
Tetraplegia
Decreased motor nerve conduction velocity
Dysarthria
Hyperactivity
Cognitive impairment
Short attention span
Intellectual disability, severe
Areflexia
Hyporeflexia
Dystonia
Postural instability
Global developmental delay
Motor delay
Dyscalculia
Dyslexia
Peripheral neuropathy
Sensorimotor neuropathy
Seizure
Somatic sensory dysfunction
Distal sensory impairment
Impaired vibratory sensation
Disease(s) Associated with PNKP
ataxia-oculomotor apraxia type 4
Charcot-Marie-Tooth disease type 2B2
microcephaly, seizures, and developmental delay

Mouse Phenotypes
intracranial hemorrhage
increased brain apoptosis
abnormal brain interneuron morphology
decreased brain size
abnormal cerebellar cortex morphology
small cerebellum
decreased oligodendrocyte number
decreased neuron number
abnormal myelination
Availability Mouse Genotype
Pnkptm1Pmc/Pnkptm1Pmc
Pnkptm1.1Pmc/Pnkptm1.1Pmc
Tg(Nes-cre)1Kln/0  (conditional)
Pnkptm1.1Pmc/Pnkptm1.1Pmc
Emx1tm1(cre)Krj/Emx1+  (conditional)
Pnkptm1.1Pmc/Pnkptm1.1Pmc
Tg(CAG-cre/Esr1*)5Amc/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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory