Symbol Name ID |
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits MGI:3643902 |
Darker colors indicate more annotations |
Human Phenotypes | Prominent occiput |
Craniofacial hyperostosis |
Craniosynostosis |
Plagiocephaly |
Thickened calvaria |
Trigonocephaly |
Micrognathia |
Mandibular prognathia |
J-shaped sella turcica |
Large sella turcica |
Microcephaly |
Premature anterior fontanel closure |
Abnormal facial shape |
Coarse facial features |
Palpebral edema |
High forehead |
Narrow forehead |
Progressive alveolar ridge hypertrophy |
Long philtrum |
Thick vermilion border |
Gingival overgrowth |
Cleft palate |
Macroglossia |
Wide mouth |
Anteverted nares |
Depressed nasal bridge |
Sparse eyebrow |
Epicanthus |
Disease(s) Associated with GNPTAB | ||||||||||||||||||||||||||||
mucolipidosis II alpha/beta | ||||||||||||||||||||||||||||
mucolipidosis III alpha/beta |
Mouse Phenotypes | abnormal facial morphology |
coarse facial features |
small nasal bridge |
abnormal lateral nasal gland morphology |
flattened snout |
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Availability | Mouse Genotype | |||||
GnptabGt(OST97730)Lex/GnptabGt(OST97730)Lex | ||||||
Gnptabnym/Gnptabnym | ||||||
Gnptabtm1Dkji/Gnptabtm1Dkji |
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 08/02/2024 MGI 6.24 |
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