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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
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
Availability Mouse Genotype
Mks1hlb614/Mks1hlb614
Mks1krc/Mks1krc
Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory