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Symbol
Name
ID

Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
MGI:105089

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes	Hypertelorism	Undetectable electroretinogram	Strabismus	Nystagmus	Limited extraocular movements	Visual loss
Disease(s) Associated with HSD17B4	Hypertelorism	Undetectable electroretinogram	Strabismus	Nystagmus	Limited extraocular movements	Visual loss
D-bifunctional protein deficiency
Perrault syndrome

Mouse Phenotypes		abnormal eye morphology	abnormal iris morphology	irregularly shaped pupil	cataract
Availability	Mouse Genotype	abnormal eye morphology	abnormal iris morphology	irregularly shaped pupil	cataract
	Hsd17b4^em1(IMPC)Tcp/Hsd17b4^em1(IMPC)Tcp
	Hsd17b4^tm1Baes/Hsd17b4^tm1Baes
	Hsd17b4^em1(IMPC)Tcp/Hsd17b4⁺

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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