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Symbol
Name
ID

Nr5a1
nuclear receptor subfamily 5, group A, member 1
MGI:1346833

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Microcephaly	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Polymicrogyria	EEG abnormality	Cognitive impairment	Reduced tendon reflexes	Profound global developmental delay	Seizure
Disease(s) Associated with NR5A1	Microcephaly	Elevated circulating follicle stimulating hormone level	Elevated circulating luteinizing hormone level	Polymicrogyria	EEG abnormality	Cognitive impairment	Reduced tendon reflexes	Profound global developmental delay	Seizure
46,XY sex reversal 3
primary ovarian insufficiency 7
Zellweger syndrome

Mouse Phenotypes		abnormal neuron differentiation	abnormal pituitary gland morphology	decreased gonadotroph cell number	abnormal hypothalamus morphology	abnormal ventromedial hypothalamic nucleus morphology	decreased ventromedial hypothalamic nucleus size	abnormal innervation
Availability	Mouse Genotype	abnormal neuron differentiation	abnormal pituitary gland morphology	decreased gonadotroph cell number	abnormal hypothalamus morphology	abnormal ventromedial hypothalamic nucleus morphology	decreased ventromedial hypothalamic nucleus size	abnormal innervation
	Nr5a1^tm1Enl/Nr5a1^tm1Enl
	Nr5a1^tm1Klp/Nr5a1^tm1Klp

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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