Mks1 Gene Summary [Mouse]
Involved in branching morphogenesis of an epithelial tube and cilium assembly. Acts upstream of or within several processes, including chordate embryonic development; plasma membrane bounded cell projection organization; and regulation of Wnt signaling pathway. Located in ciliary transition zone; membrane; and microtubule organizing center. Part of MKS complex. Is expressed in several structures, including brain; esophagus epithelium; lung; metanephros; and secondary heart field. Used to study Meckel syndrome; atrioventricular septal defect; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mks1 |
| Official Name | MKS transition zone complex subunit 1 [Source:MGI Symbol;Acc:MGI:3584243] |
| Ensembl ID | ENSMUSG00000034121 |
| Bio databases IDs | |
| Aliases | MKS transition zone complex subunit 1 |
| Synonyms | avc6, B8d3, BBS13, JBTS28, MES, MKS, MKS transition zone complex subunit 1, POC12 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mks1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary basal body-associated, B9 protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Bardet-Biedl syndrome type 13
- Meckel syndrome type 1
- hereditary disorder
- MKS1-related disorder
- Joubert syndrome type 1
- Joubert syndrome type 28
- Bardet-Biedl syndrome
- Meckel syndrome
- hereditary spastic ataxia
- ciliopathy
phenotypes
- process of degenerative change
- abnormal autopod morphology
- abnormal bile duct development
- abnormal bile duct morphology
- abnormal brain morphology
- abnormal cell morphology
- abnormal cerebral aqueduct morphology
- abnormal cerebral cortex morphology
- abnormal cerebral hemisphere morphology
- abnormal cochlear hair cell morphology
- abnormal cochlear outer hair cell morphology
- abnormal craniofacial morphology
- abnormal direction of heart looping
- abnormal ear morphology
- abnormal embryo turning
- abnormal endochondral bone ossification
- abnormal ependyma motile cilium morphology
- abnormal eye morphology
- abnormal floor plate morphology
- abnormal fontanelle morphology
- abnormal forebrain development
- abnormal frontal bone morphology
- abnormal heart looping
- abnormal liver morphology
- abnormal long bone morphology
- abnormal loop of Henle ascending limb thick segment morphology
- abnormal motile primary cilium morphology
- abnormal nail morphology
- abnormal neocortex morphology
- abnormal neural tube morphology
- abnormal occipital bone morphology
- abnormal orientation of outer hair cell stereociliary bundles
- abnormal ovary development
- abnormal parietal bone morphology
- abnormal pollex morphology
- abnormal posterior cranial fossa morphology
- abnormal renal glomerular capsule morphology
- abnormal renal tubule epithelial cell primary cilium morphology
- abnormal reproductive system morphology
- abnormal respiration
- abnormal sternum morphology
- abnormal stomach position or orientation
- abnormal supraoccipital bone morphology
- abnormal thoracic cage morphology
- abnormal urinary system development
- absent maxilla
- absent nodal flow
- absent spleen
- accessory spleen
- anophthalmia
- cerebellum vermis hypoplasia
- cleft palate
- cleft upper lip
- complete atrioventricular septal defect
- cyanosis
- decreased embryonic cilium length
- decreased embryonic cilium number
- decreased kidney epithelial cell primary cilium length
- decreased length of long bones
- dextrocardia
- dilated kidney collecting duct
- dilated nephron
- dilated renal glomerular capsule
- domed cranium
- duplex kidney
- ectopic ovary
- edema
- embryonic lethality during organogenesis incomplete penetrance
- enlarged fourth ventricle
- enlarged heart
- enlarged kidney
- enophthalmos
- exencephaly
- fused right lung lobes
- heterotaxia
- holoprosencephaly
- hydrocephaly
- incomplete rostral neuropore closure
- increased cell proliferation
- increased kidney cell proliferation
- increased neuron apoptosis
- kidney cortex cysts
- kidney cysts
- left pulmonary isomerism
- lethality throughout fetal growth and development complete penetrance
- lethality throughout fetal growth and development incomplete penetrance
- liver cysts
- liver fibrosis
- mandible hypoplasia
- micrognathia
- microphthalmia
- neonatal lethality complete penetrance
- ocular hypertelorism
- omphalocele
- pericardial effusion
- perinatal lethality
- pointed snout
- polycystic kidney
- polydactyly
- polyphalangy
- preaxial polydactyly
- presphenoid bone hypoplasia
- pulmonary hypoplasia
- rib bifurcation
- rib fusion
- right aortic arch
- short sternum
- situs inversus
- small heart
- split sternal manubrium
- transposition of great arteries
role in cell
- formation in
- quantity
- formation
- assembly
- organization
- branching morphogenesis in
- ciliogenesis in
- positioning in
- positioning
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- cell borders
- intracellular space
- cellular membrane
- basal bodies
- centrosome
- centriole
- cytosol
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mks1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear receptor stereocilium organization
- head development
- cilium morphogenesis
- regulation of Wnt receptor signaling pathway, planar cell polarity pathway
- smoothened receptor signaling pathway involved in regulation of secondary heart field cardioblast proliferation
- common bile duct development
- branching morphogenesis of a tube
- cardiac septum morphogenesis
- motile cilium assembly
- embryonic skeletal system development
- determination of left/right symmetry
- regulation of smoothened signaling pathway
- embryonic digit morphogenesis
- neural tube closure
- epithelial structure maintenance
- regulation of canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- centrosome
- cilium basal body
- centriole
- cytoplasm
- membrane
- cytosol
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding