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Symbol
Name
ID
Hkdc1
hexokinase domain containing 1
MGI:2384910
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abnormal retinal vascular morphology
Attenuation of retinal blood vessels
Keratoconus
Posterior subcapsular cataract
Optic atrophy
Optic disc pallor
Abnormality of retinal pigmentation
Bone spicule pigmentation of the retina
Retinal degeneration
Abnormal electroretinogram
Nystagmus
Ophthalmoplegia
Nyctalopia
Progressive night blindness
Photophobia
Photopsia
Visual impairment
Blindness
Peripheral visual field loss
Glaucoma
Disease(s) Associated with HKDC1
retinitis pigmentosa

Mouse Phenotypes
vision/eye phenotype
thin retina inner nuclear layer
thin retina outer nuclear layer
retina outer nuclear layer degeneration
abnormal retina photoreceptor layer morphology
decreased a-wave amplitude
decreased b-wave amplitude
Availability Mouse Genotype
Hkdc1em1Xjz/Hkdc1em1Xjz *
Hkdc1em2Xjz/Hkdc1em2Xjz *
Hkdc1em1Xjz/Hkdc1em2Xjz *

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
04/16/2024
MGI 6.23
The Jackson Laboratory