Symbol
Name
ID

Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
MGI:3643902

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes

Prominent occiput

Craniofacial hyperostosis

Craniosynostosis

Thickened calvaria

Trigonocephaly

Micrognathia

Mandibular prognathia

J-shaped sella turcica

Large sella turcica

Premature anterior fontanel closure

Abnormal facial shape

Coarse facial features

Palpebral edema

High forehead

Narrow forehead

Progressive alveolar ridge hypertropy

Long philtrum

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
Availability	Mouse Genotype	abnormal facial morphology	coarse facial features	small nasal bridge	abnormal lateral nasal gland morphology	flattened snout
	Gnptab^{Gt(OST97730)Lex}/Gnptab^{Gt(OST97730)Lex}
	Gnptab^nym/Gnptab^nym
	Gnptab^tm1Dkji/Gnptab^tm1Dkji

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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