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 | Sparse scalp hair |
Dandy-Walker malformation |
Microcephaly |
Macrocephaly |
Coarse facial features |
Facial palsy |
Long philtrum |
Thick vermilion border |
Cleft palate |
High palate |
Macroglossia |
Wide mouth |
Delayed eruption of permanent teeth |
Anteverted nares |
Depressed nasal bridge |
Wide nose |
Thick eyebrow |
Long eyelashes |
Lisch nodules |
Retinal hamartoma |
Disease(s) Associated with SMARCB1 | ||||||||||||||||||||
atypical teratoid rhabdoid tumor | ||||||||||||||||||||
Coffin-Siris syndrome 3 | ||||||||||||||||||||
vestibular schwannomatosis |
Mouse Phenotypes | increased facial tumor incidence |
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Availability | Mouse Genotype | |
Smarcb1tm1Gvk/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 04/16/2024 MGI 6.23 |
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