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Symbol
Name
ID

Fa2h
fatty acid 2-hydroxylase
MGI:2443327

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Ankle clonus

Oculomotor apraxia

Lower limb spasticity

Spastic paraplegia

Spastic tetraparesis

Difficulty walking

Frequent falls

Peripheral demyelination

Pontocerebellar atrophy

Atrophy/Degeneration affecting the brainstem

Cerebral cortical atrophy

Eye of the tiger anomaly of globus pallidus

Hypoplasia of the corpus callosum

Corpus callosum atrophy

Cerebellar atrophy

Dysdiadochokinesis

Dysmetria

Babinski sign

Dysarthria

Cognitive impairment

Mental deterioration

Intellectual disability

Hyperreflexia

Generalized dystonia

Seizure

Disease(s) Associated with FA2H

hereditary spastic paraplegia 35

Mouse Phenotypes		nervous system phenotype	abnormal cerebellum morphology	abnormal Purkinje cell morphology	decreased Purkinje cell size	abnormal astrocyte morphology	abnormal axon morphology	abnormal myelin sheath morphology	abnormal optic nerve morphology	demyelination
Availability	Mouse Genotype	nervous system phenotype	abnormal cerebellum morphology	abnormal Purkinje cell morphology	decreased Purkinje cell size	abnormal astrocyte morphology	abnormal axon morphology	abnormal myelin sheath morphology	abnormal optic nerve morphology	demyelination
	Fa2h^tm1.1Hama/Fa2h^tm1.1Hama	*
	Fa2h^tm1Meck/Fa2h^tm1Meck	*
	Fa2h^tm1Hama/Fa2h^tm1Hama Cnp^tm1(cre)Kan/Cnp⁺ (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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