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Symbol Name ID |
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 MGI:1328366 |
| Darker colors indicate more annotations |
| Human Phenotypes | Lisch nodules |
Retinal hamartoma |
Abnormality of the eye |
Cataract |
Posterior subcapsular cataract |
Juvenile posterior subcapsular lenticular opacities |
Cortical cataract |
Abnormal optic nerve morphology |
Epiretinal membrane |
Remnants of the hyaloid vascular system |
Diplopia |
Visual impairment |
Reduced visual acuity |
Amblyopia |
Blindness |
Visual loss |
Ptosis |
| Disease(s) Associated with SMARCB1 | |||||||||||||||||
| Coffin-Siris syndrome 3 | |||||||||||||||||
| schwannomatosis | |||||||||||||||||
| vestibular schwannomatosis |
| Mouse Phenotypes | increased cornea thickness |
abnormal eye anterior chamber depth |
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| Availability | Mouse Genotype | ||
| Smarcb1tm1b(EUCOMM)Hmgu/Smarcb1+ | |||
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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