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Symbol Name ID |
Nphp4
nephronophthisis 4 (juvenile) homolog (human) MGI:2384210 |
| Darker colors indicate more annotations |
| Human Phenotypes | Oculomotor apraxia |
Elongated superior cerebellar peduncle |
Thickened superior cerebellar peduncle |
Aplasia/Hypoplasia of the cerebellar vermis |
Cerebellar vermis hypoplasia |
Molar tooth sign on MRI |
Ataxia |
Polydipsia |
Intellectual disability |
Intellectual disability, mild |
Postural instability |
Global developmental delay |
Delayed gross motor development |
| Disease(s) Associated with NPHP4 | |||||||||||||
| Joubert syndrome 4 | |||||||||||||
| nephronophthisis 4 | |||||||||||||
| Senior-Loken syndrome |
| Mouse Phenotypes | abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
retina photoreceptor degeneration |
|
| Availability | Mouse Genotype | |||
| Nphp4nmf192/Nphp4nmf192 | ||||
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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