Symbol
Name
ID

Pnpla6
patatin-like phospholipase domain containing 6
MGI:1354723

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Decreased response to growth hormone stimulation test

Photophobia

Spasticity

Lower limb spasticity

Spastic paraplegia

Progressive spastic paraplegia

Abnormal upper motor neuron morphology

Peripheral axonal neuropathy

Motor axonal neuropathy

Cerebellar atrophy

Spinocerebellar atrophy

Atrophy of the spinal cord

Ataxia

Gait ataxia

Intention tremor

Babinski sign

Scanning speech

Intellectual disability

Intellectual disability, mild

Hyperreflexia

Areflexia

Hyporeflexia

Gait disturbance

Peripheral neuropathy

Seizure

Disease(s) Associated with PNPLA6

Boucher-Neuhauser syndrome

hereditary spastic paraplegia 39

Laurence-Moon syndrome

Oliver-McFarlane syndrome

Mouse Phenotypes

intracranial hemorrhage

abnormal neural plate morphology

abnormal neural tube closure

abnormal thalamus morphology

abnormal hippocampus morphology

decreased Purkinje cell number

abnormal corticospinal tract morphology

abnormal lateral corticospinal tract morphology

abnormal neuron morphology

abnormal axon morphology

neurodegeneration

Availability

Mouse Genotype

Pnpla6^tm1Blw/Pnpla6^tm1Blw

Pnpla6^tm1Mos/Pnpla6^tm1Mos

Pnpla6^tm1Mvc/Pnpla6^tm1Mvc
Tg(Nes-cre)1Kln/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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