|
Symbol Name ID |
Mks1
MKS transition zone complex subunit 1 MGI:3584243 |
| Darker colors indicate more annotations |
| Human Phenotypes | Attenuation of retinal blood vessels |
Astigmatism |
Cataract |
Iris coloboma |
Optic disc pallor |
Pigmentary retinopathy |
Bone spicule pigmentation of the retina |
Retinal dystrophy |
Cone/cone-rod dystrophy |
Rod-cone dystrophy |
Hypertelorism |
Hypotelorism |
Microphthalmia |
Abnormal electroretinogram |
Strabismus |
Nystagmus |
Rotary nystagmus |
Oculomotor apraxia |
Color vision defect |
Nyctalopia |
Photophobia |
Reduced visual acuity |
Blindness |
Ptosis |
| Disease(s) Associated with MKS1 | ||||||||||||||||||||||||
| Bardet-Biedl syndrome | ||||||||||||||||||||||||
| Bardet-Biedl syndrome 13 | ||||||||||||||||||||||||
| Joubert syndrome 28 | ||||||||||||||||||||||||
| Meckel syndrome 1 |
| Mouse Phenotypes | abnormal eye morphology |
enophthalmos |
ocular hypertelorism |
microphthalmia |
anophthalmia |
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| Availability | Mouse Genotype | |||||
| Mks1hlb614/Mks1hlb614 | ||||||
| Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi | ||||||
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 |
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