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Symbol Name ID |
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits MGI:3643902 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal cardiovascular system morphology |
Abnormal heart valve morphology |
Abnormal aortic valve morphology |
Cardiomyopathy |
Hypertrophic cardiomyopathy |
Cardiomegaly |
Severely reduced left ventricular ejection fraction |
Heart murmur |
Aortic regurgitation |
Mitral regurgitation |
Congestive heart failure |
Splenomegaly |
Cavernous hemangioma |
| Disease(s) Associated with GNPTAB | |||||||||||||
| mucolipidosis II alpha/beta | |||||||||||||
| mucolipidosis III alpha/beta |
| Mouse Phenotypes | abnormal blood vessel morphology |
abnormal placenta vasculature |
abnormal heart morphology |
enlarged heart |
small heart |
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| Availability | Mouse Genotype | |||||
| Gnptabem1(IMPC)Mbp/Gnptabem1(IMPC)Mbp | ||||||
| Gnptabem1(IMPC)Mbp/Gnptab+ | ||||||
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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