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Symbol
Name
ID
Epg5
ectopic P-granules 5 autophagy tethering factor
MGI:1918673
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Cataract
Developmental cataract
Ocular albinism
Optic atrophy
Abnormal macular morphology
Macular hypoplasia
Macular atrophy
Abnormality of retinal pigmentation
Hypopigmentation of the fundus
Hypertelorism
Hypotelorism
Nystagmus
Ptosis
Disease(s) Associated with EPG5
Vici syndrome

Mouse Phenotypes
increased retina apoptosis
decreased retina cone cell number
abnormal photoreceptor inner segment morphology
abnormal photoreceptor outer segment size
retina rod cell degeneration
retina photoreceptor degeneration
thin retina outer nuclear layer
retina outer nuclear layer degeneration
abnormal electroretinogram waveform feature
decreased b-wave amplitude
Availability Mouse Genotype
Epg5tm1Ygz/Epg5tm1Ygz

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
04/23/2024
MGI 6.23
The Jackson Laboratory