Symbol Name ID |
Nr5a1
nuclear receptor subfamily 5, group A, member 1 MGI:1346833 |
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 | |||||||||
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 |
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Availability | Mouse Genotype | |||||||
Nr5a1tm1Enl/Nr5a1tm1Enl | ||||||||
Nr5a1tm1Klp/Nr5a1tm1Klp |
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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last database update 06/12/2024 MGI 6.13 |
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