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Symbol
Name
ID
Gja1
gap junction protein, alpha 1
MGI:95713
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Abnormality of the eye
Microcornea
Corneal opacity
Cataract
Nuclear cataract
Abnormality iris morphology
Persistent pupillary membrane
Optic atrophy
Uveitis
Deeply set eye
Hypertelorism
Hypotelorism
Microphthalmia
Strabismus
Nystagmus
High hypermetropia
Myopia
Abnormality of vision
Photophobia
Visual impairment
Glaucoma
Disease(s) Associated with GJA1
autosomal recessive craniometaphyseal dysplasia
erythrokeratodermia variabilis
oculodentodigital dysplasia
palmoplantar keratoderma and congenital alopecia 1

Mouse Phenotypes
abnormal iris morphology
irregularly shaped pupil
cornea opacity
Availability Mouse Genotype
Gja1M1Jrt/Gja1+

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
05/07/2024
MGI 6.23
The Jackson Laboratory