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Symbol
Name
ID
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
MGI:105089
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Increased circulating gonadotropin level
Spastic diplegia
Cerebral dysmyelination
Decreased nerve conduction velocity
Sensorimotor neuropathy
Polymicrogyria
Cortical dysplasia
Hypoplasia of the corpus callosum
Corpus callosum atrophy
Cerebral hypoplasia
Generalized cerebral atrophy/hypoplasia
Aplasia/Hypoplasia of the cerebellum
Cerebellar atrophy
Ventriculomegaly
Gliosis
Gait ataxia
Cognitive impairment
Dysarthria
Areflexia
Hyporeflexia
Global developmental delay
Motor delay
Seizures
Disease(s) Associated with HSD17B4
D-bifunctional protein deficiency
Perrault 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)

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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last database update
06/11/2019
MGI 6.14
The Jackson Laboratory