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 |
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 |
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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 08/02/2024 MGI 6.24 |
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