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Symbol
Name
ID

Mks1
MKS transition zone complex subunit 1
MGI:3584243

Phenotype annotations related to nervous system

!	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

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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