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Symbol
Name
ID

Mks1
MKS transition zone complex subunit 1
MGI:3584243

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes

Retrognathia

Abnormal oral cavity morphology

Long philtrum

High palate

Microdontia

Hypodontia

Dental crowding

Depressed nasal bridge

Prominent nasal bridge

Abnormality of the sense of smell

Rhinitis

Medial flaring of the eyebrow

Downslanted palpebral fissures

Disease(s) Associated with MKS1

Bardet-Biedl syndrome

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

Availability

Mouse Genotype

Mks1^hlb614/Mks1^hlb614

Mks1^krc/Mks1^krc

Mks1^{tm1a(EUCOMM)Wtsi}/Mks1^{tm1a(EUCOMM)Wtsi}

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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