Symbol Name ID |
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits MGI:3643902 |
Darker colors indicate more annotations |
Human Phenotypes | Macroglossia |
Knee flexion contracture |
Claw hand deformity |
Diastasis recti |
Arthrogryposis multiplex congenita |
Camptodactyly |
Hypertonia |
Hypotonia |
Axial hypotonia |
Generalized hypotonia |
Neonatal hypotonia |
Poor head control |
Disease(s) Associated with GNPTAB | ||||||||||||
mucolipidosis II alpha/beta | ||||||||||||
mucolipidosis III alpha/beta |
Mouse Phenotypes | progressive muscle weakness |
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Availability | Mouse Genotype | |
Gnptabnym/Gnptabnym |
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 09/03/2024 MGI 6.24 |
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