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Symbol
Name
ID
Ahi1
Abelson helper integration site 1
MGI:87971
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Pigmentary retinopathy
Retinal dystrophy
Abnormal electroretinogram
Nystagmus
Hypometric saccades
Oculomotor apraxia
Visual impairment
Ptosis
Disease(s) Associated with AHI1
Joubert syndrome 3
Joubert syndrome 4

Mouse Phenotypes
vision/eye phenotype
abnormal retina apoptosis
absent photoreceptor outer segment
retina photoreceptor degeneration
thin retina outer nuclear layer
abnormal rod electrophysiology
Availability Mouse Genotype
Ahi1tm1Jgg/Ahi1tm1Jgg *
Ahi1tm1Jgg/Ahi1tm2.1Jgg
Tg(Nes-cre)1Kln/0  (conditional)
Ahi1tm1Jgg/Ahi1tm2.1Jgg
Tg(Pax6-cre,GFP)2Pgr/0  (conditional)

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