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Symbol Name ID |
Nsdhl
NAD(P) dependent steroid dehydrogenase-like MGI:1099438 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Abnormal cerebral cortex morphology |
Pachygyria |
Polymicrogyria |
Aplasia/Hypoplasia involving the central nervous system |
Aphasia |
Delayed speech and language development |
Irritability |
Atypical behavior |
Aggressive behavior |
Hyperactivity |
Intellectual disability |
Intellectual disability, mild |
Sleep abnormality |
Global developmental delay |
Seizure |
| Disease(s) Associated with NSDHL | ||||||||||||||||
| CHILD syndrome | ||||||||||||||||
| CK syndrome |
| Mouse Phenotypes | thin external granule cell layer |
abnormal forebrain morphology |
abnormal hippocampus morphology |
abnormal dentate gyrus morphology |
abnormal hippocampus granule cell morphology |
abnormal hippocampus neuron morphology |
small hippocampus |
abnormal cerebral cortex morphology |
abnormal Bergmann glial cell morphology |
abnormal Purkinje cell dendrite morphology |
abnormal cerebellar granule cell morphology |
decreased cerebellar granule cell number |
small cerebellum |
abnormal neurite morphology |
abnormal neuronal stem cell physiology |
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| Availability | Mouse Genotype | |||||||||||||||
| NsdhlBpa-8H/Y | ||||||||||||||||
| Nsdhltm1.1Hrm/Y Tg(GFAP-cre)25Mes/0 (conditional) |
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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 04/30/2024 MGI 6.23 |
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