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Symbol
Name
ID
Pigq
phosphatidylinositol glycan anchor biosynthesis, class Q
MGI:1333114
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Astigmatism
Vertical nystagmus
Cerebral visual impairment
Alacrima
Ptosis
Disease(s) Associated with PIGQ
multiple congenital anomalies-hypotonia-seizures syndrome 4

Mouse Phenotypes
abnormal retina vasculature morphology
increased cornea thickness
abnormal eye anterior chamber depth
abnormal optic vesicle formation
abnormal retina inner nuclear layer morphology
abnormal retina outer nuclear layer morphology
decreased total retina thickness
Availability Mouse Genotype
Pigqtm2b(EUCOMM)Wtsi/Pigqtm2b(EUCOMM)Wtsi
Pigqtm2b(EUCOMM)Wtsi/Pigq+

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