|
Symbol Name ID |
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4 MGI:105089 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Elevated circulating follicle stimulating hormone level |
Elevated circulating luteinizing hormone level |
Increased circulating gonadotropin level |
Spastic diplegia |
Opisthotonus |
Frequent falls |
Gliosis |
Cerebral dysmyelination |
Ventriculomegaly |
Polymicrogyria |
Cortical dysplasia |
Hypoplasia of the corpus callosum |
Corpus callosum atrophy |
Cerebral hypoplasia |
Cerebellar atrophy |
Tarlov cyst |
Ataxia |
Gait ataxia |
Exaggerated startle response |
Myoclonic spasms |
Intention tremor |
Decreased nerve conduction velocity |
Dysarthria |
Depression |
Anxiety |
Agoraphobia |
Cognitive impairment |
Intellectual disability, mild |
Hyperreflexia |
Areflexia |
Hyporeflexia |
Motor regression |
Global developmental delay |
Motor delay |
Sensorimotor neuropathy |
Seizure |
Bilateral tonic-clonic seizure |
| Disease(s) Associated with HSD17B4 | ||||||||||||||||||||||||||||||||||||||
| D-bifunctional protein deficiency | ||||||||||||||||||||||||||||||||||||||
| Perrault syndrome | ||||||||||||||||||||||||||||||||||||||
| Stiff-Person syndrome |
| Mouse Phenotypes | nervous system phenotype |
microgliosis |
Purkinje cell degeneration |
cerebellum atrophy |
astrocytosis |
neuron degeneration |
axon degeneration |
demyelination |
|
| Availability | Mouse Genotype | ||||||||
| Hsd17b4tm1Baes/Hsd17b4tm1Baes | * | ||||||||
| Hsd17b4tm2Baes/Hsd17b4tm2Baes Cnptm1(cre)Kan/Cnp+ (conditional) |
* | ||||||||
| Hsd17b4tm2Baes/Hsd17b4tm2Baes Tg(Nes-cre)1Kln/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 04/16/2024 MGI 6.23 |
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