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Symbol
Name
ID
Tmem53
transmembrane protein 53
MGI:1916027
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Dolichocephaly
Thickened calvaria
Sclerosis of skull base
Macrocephaly
Coarse facial features
Prominent glabella
Prominent forehead
Thick lower lip vermilion
Long philtrum
Thick upper lip vermilion
Anteverted nares
Wide nasal bridge
Epicanthus
Disease(s) Associated with TMEM53
craniotubular dysplasia Ikegawa type

Mouse Phenotypes
abnormal coronal suture morphology
abnormal basicranium morphology
optic canal stenosis
thick neurocranium
craniofacial hyperostosis
high forehead
Availability Mouse Genotype
Tmem53em1Ikeg/Tmem53em1Ikeg

Contributing Projects:
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
09/17/2024
MGI 6.24
The Jackson Laboratory