Symbol Name ID |
Mks1
MKS transition zone complex subunit 1 MGI:3584243 |
Darker colors indicate more annotations |
Human Phenotypes | Micrognathia |
Retrognathia |
Dandy-Walker malformation |
Microcephaly |
Occipital encephalocele |
Broad forehead |
Sloping forehead |
Abnormal oral cavity morphology |
Long philtrum |
Smooth philtrum |
Thin upper lip vermilion |
Cleft upper lip |
Cleft palate |
High palate |
Lobulated tongue |
Wide mouth |
Microdontia |
Hypodontia |
Natal tooth |
Dental crowding |
Depressed nasal bridge |
Prominent nasal bridge |
Wide nasal bridge |
Enlarged naris |
Abnormality of the sense of smell |
Rhinitis |
Highly arched eyebrow |
Medial flaring of the eyebrow |
Downslanted palpebral fissures |
Epicanthus inversus |
Disease(s) Associated with MKS1 | ||||||||||||||||||||||||||||||
Bardet-Biedl syndrome | ||||||||||||||||||||||||||||||
Joubert syndrome 28 | ||||||||||||||||||||||||||||||
Meckel syndrome 1 |
Mouse Phenotypes | abnormal craniofacial morphology |
abnormal posterior cranial fossa morphology |
abnormal fontanelle morphology |
abnormal frontal bone morphology |
abnormal occipital bone morphology |
abnormal supraoccipital bone morphology |
abnormal parietal bone morphology |
presphenoid bone hypoplasia |
mandible hypoplasia |
absent maxilla |
micrognathia |
domed cranium |
cleft upper lip |
cleft palate |
pointed snout |
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Availability | Mouse Genotype | |||||||||||||||
Mks1hlb614/Mks1hlb614 | ||||||||||||||||
Mks1krc/Mks1krc | ||||||||||||||||
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 03/19/2024 MGI 6.23 |
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