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Symbol Name ID |
Rpgrip1l
Rpgrip1-like MGI:1920563 |
| Darker colors indicate more annotations |
| Human Phenotypes | Encephalocele |
Occipital encephalocele |
Oculomotor apraxia |
Photophobia |
Hypoplasia of the brainstem |
Brainstem dysplasia |
Abnormal corpus callosum morphology |
Anencephaly |
Molar tooth sign on MRI |
Spina bifida |
Ataxia |
Intellectual disability |
Global developmental delay |
| Disease(s) Associated with RPGRIP1L | |||||||||||||
| anencephaly | |||||||||||||
| Joubert syndrome 7 | |||||||||||||
| Meckel syndrome 5 | |||||||||||||
| retinitis pigmentosa 3 |
| Mouse Phenotypes | anastomosis between internal carotid artery and basilar artery |
absent segment of posterior cerebral artery |
abnormal brain vasculature morphology |
abnormal basilar artery morphology |
abnormal neural tube morphology |
absent floor plate |
absent Rathke's pouch |
small Rathke's pouch |
absent adenohypophysis |
abnormal pineal gland morphology |
absent superior cervical ganglion |
small superior cervical ganglion |
holoprosencephaly |
dilated brain ventricle |
decreased corpus callosum size |
absent corpus callosum |
absent brain internal capsule |
abnormal midbrain morphology |
abnormal forebrain morphology |
abnormal olfactory bulb morphology |
absent olfactory bulb |
small olfactory bulb |
abnormal hindbrain morphology |
cerebellum hypoplasia |
exencephaly |
abnormal accessory nerve morphology |
thin facial nerve |
abnormal hypoglossal nerve topology |
absent hypoglossal nerve |
thin hypoglossal nerve |
absent oculomotor nerve |
absent optic chiasm |
thin motoric part of trigeminal nerve |
abnormal intrathoracic topology of vagus nerve |
small dorsal root ganglion |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||
| Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi | ||||||||||||||||||||||||||||||||||||
| Rpgrip1ltm1Urt/Rpgrip1ltm1Urt | ||||||||||||||||||||||||||||||||||||
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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