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Symbol
Name
ID

Mks1
MKS transition zone complex subunit 1
MGI:3584243

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Micrognathia

Retrognathia

Dandy-Walker malformation

Microcephaly

Occipital encephalocele

Short neck

Bowing of the long bones

Fifth finger distal phalanx clinodactyly

Postaxial hand polydactyly

Camptodactyly of finger

Radial deviation of finger

Postaxial foot polydactyly

Foot polydactyly

Clinodactyly

Polydactyly

Postaxial polydactyly

Brachydactyly

Syndactyly

Finger syndactyly

Joint hypermobility

Disease(s) Associated with MKS1

Bardet-Biedl syndrome

Bardet-Biedl syndrome 13

Joubert syndrome 28

Meckel syndrome 1

Mouse Phenotypes

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

polyphalangy

abnormal long bone morphology

decreased length of long bones

abnormal sternum morphology

split sternal manubrium

short sternum

abnormal thoracic cage morphology

rib bifurcation

rib fusion

abnormal endochondral bone ossification

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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