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Symbol
Name
ID
Atp8a2
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
MGI:1354710
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Cataract
Strabismus
Gaze-evoked nystagmus
Disease(s) Associated with ATP8A2
cerebellar ataxia, mental retardation and dysequlibrium syndrome

Mouse Phenotypes
vision/eye phenotype
decreased retina photoreceptor cell number
short photoreceptor outer segment
short retina cone cell outer segment
disorganized photoreceptor outer segment
retina photoreceptor degeneration
optic nerve degeneration
abnormal retina pigment epithelium morphology
thin retina outer nuclear layer
abnormal cone electrophysiology
abnormal rod electrophysiology
Availability Mouse Genotype
Atp8a2agil-2J/Atp8a2agil-2J *
Atp8a2tm1Rsmy/Atp8a2tm1Rsmy *
Atp8a2wl-vmd/Atp8a2wl-vmd
Atp8a2wl/Atp8a2wl *

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