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Symbol
Name
ID

Wdr45
WD repeat domain 45
MGI:1859606

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Spastic paraparesis

Eye of the tiger anomaly of globus pallidus

Iron accumulation in substantia nigra

Cerebral atrophy

Cerebellar atrophy

Iron accumulation in brain

Neurodegeneration

Bradykinesia

Parkinsonism

Tremor

Absent speech

Delayed speech and language development

Poor speech

Anxiety

Aggressive behavior

Mental deterioration

Dementia

Intellectual disability

Sleep abnormality

Abnormal postural reflex

Akinesia

Dystonia

Frontal release signs

Progressive encephalopathy

Global developmental delay

Delayed ability to walk

Seizure

Abnormal autonomic nervous system physiology

Disease(s) Associated with WDR45

neurodegeneration with brain iron accumulation 5

Mouse Phenotypes		abnormal cerebellar Purkinje cell layer	brain vacuoles	astrocytosis	decreased dopaminergic neuron number	neurodegeneration	axon degeneration	axonal spheroids	demyelination	abnormal excitatory postsynaptic potential	reduced long-term potentiation
Availability	Mouse Genotype	abnormal cerebellar Purkinje cell layer	brain vacuoles	astrocytosis	decreased dopaminergic neuron number	neurodegeneration	axon degeneration	axonal spheroids	demyelination	abnormal excitatory postsynaptic potential	reduced long-term potentiation
	Wdr45^em1Wrst/Wdr45^em1Wrst
	Wdr45^em1Wrst/Y
	Wdr45^tm1Beij/Wdr45^tm1Beij Tg(Nes-cre)1Kln/0 (conditional)
	Wdr45^tm1Beij/Wdr45⁺ Tg(Nes-cre)1Kln/0 (conditional)
	Wdr45^tm1Beij/Y 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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