Symbol Name ID |
Mks1
MKS transition zone complex subunit 1 MGI:3584243 |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Dandy-Walker malformation |
Microcephaly |
Occipital encephalocele |
Abnormality of the sense of smell |
Aganglionic megacolon |
Oculomotor apraxia |
Photophobia |
Spasticity |
Dilated fourth ventricle |
Hydrocephalus |
Ventriculomegaly |
Agenesis of corpus callosum |
Anencephaly |
Cerebral hypoplasia |
Olfactory lobe agenesis |
Cerebellar hypoplasia |
Chiari malformation |
Molar tooth sign on MRI |
Ataxia |
Abnormality of speech or vocalization |
Absent speech |
Delayed speech and language development |
Dysarthria |
Nasal dysarthria |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Autism |
Cognitive impairment |
Short attention span |
Intellectual disability |
Lower limb hyperreflexia |
Neurodevelopmental delay |
Global developmental delay |
Delayed ability to sit |
Delayed ability to walk |
Specific learning disability |
Seizure |
Disease(s) Associated with MKS1 | |||||||||||||||||||||||||||||||||||||||
Bardet-Biedl syndrome | |||||||||||||||||||||||||||||||||||||||
Bardet-Biedl syndrome 13 | |||||||||||||||||||||||||||||||||||||||
Joubert syndrome 28 | |||||||||||||||||||||||||||||||||||||||
Meckel syndrome 1 |
Mouse Phenotypes | abnormal ependyma motile cilium morphology |
increased neuron apoptosis |
abnormal neural tube morphology |
abnormal floor plate morphology |
incomplete rostral neuropore closure |
abnormal cochlear hair cell morphology |
abnormal orientation of outer hair cell stereociliary bundles |
abnormal cochlear outer hair cell morphology |
abnormal brain morphology |
abnormal forebrain development |
semilobar holoprosencephaly |
hydrocephaly |
enlarged fourth ventricle |
abnormal cerebral aqueduct morphology |
abnormal cerebral hemisphere morphology |
abnormal cerebral cortex morphology |
abnormal neocortex morphology |
cerebellum vermis hypoplasia |
exencephaly |
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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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