|
Symbol Name ID |
Sox2
SRY (sex determining region Y)-box 2 MGI:98364 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Anterior pituitary hypoplasia |
Optic nerve hypoplasia |
Spastic diplegia |
Spastic tetraplegia |
Hydrocephalus |
Agenesis of corpus callosum |
Hypoplasia of the corpus callosum |
Hypothalamic hamartoma |
Holoprosencephaly |
Intellectual disability |
Global developmental delay |
Specific learning disability |
| Disease(s) Associated with SOX2 | |||||||||||||
| syndromic microphthalmia 3 |
| Mouse Phenotypes | nonconvulsive seizures |
abnormal neuron differentiation |
abnormal radial glial cell morphology |
abnormal neuronal precursor proliferation |
abnormal pituitary gland morphology |
abnormal adenohypophysis development |
bifurcated Rathke's pouch |
decreased somatotroph cell number |
small adenohypophysis |
abnormal cochlear hair cell morphology |
absent vestibular hair cells |
decreased cochlear nerve compound action potential |
abnormal nervous system morphology |
abnormal brain morphology |
abnormal hippocampus development |
enlarged lateral ventricles |
enlarged third ventricle |
abnormal corpus callosum morphology |
decreased corpus callosum size |
abnormal thalamus morphology |
abnormal dentate gyrus morphology |
absent dentate gyrus |
loss of hippocampal neurons |
small hippocampus |
abnormal cerebral cortex morphology |
abnormal ependyma morphology |
motor neuron degeneration |
abnormal optic disk morphology |
optic nerve hypoplasia |
abnormal nervous system physiology |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||
| Sox2ysb/Sox2ysb | |||||||||||||||||||||||||||||||
| Sox2em1(IMPC)Mbp/Sox2+ | |||||||||||||||||||||||||||||||
| Sox2tm1Lpev/Sox2tm4Lpev | |||||||||||||||||||||||||||||||
| Sox2tm1Rlb/Sox2+ | |||||||||||||||||||||||||||||||
| Sox2tm2Skn/Sox2tm3Skn | |||||||||||||||||||||||||||||||
| Sox2tm1Okud/Sox2tm1Okud Tg(Nes-cre)1Sasa/? (conditional) |
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| Sox2tm4.1Skn/Sox2tm4.1Skn Tg(Sox2-cre/ERT2)1Skn/0 (conditional) |
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| Sox2tm2Skn/Sox2tm4.1Skn Tg(Nes-cre)1Kln/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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