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Mks1
Gene Detail
Symbol

Name
ID
Mks1
Meckel syndrome, type 1
MGI:3584243
Synonyms
B8d3
Feature Type
protein coding gene
Genetic Map
Chromosome 11
52.24 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr11:87853215-87863803 bp, + strand
From VEGA annotation of GRCm38

  10589 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9833  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MKS1
Gene Tree: Mks1

Human
homologs
MKS1, Meckel syndrome, type 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 54903
neXtProt AC: NX_Q9NXB0

Human Synonyms: BBS13, MES, MKS, POC12

Human Chr (Location): 17q22; chr17:58205436-58219605 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human MKS1

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Chemically induced (ENU)(2) Gene trapped(4) Targeted(5)
Genomic Mutations involving Mks1 (3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology.
 
Human Diseases Modeled in Mice Using Mks1 (1)    Mutations Annotated to Human Diseases (4)   
Interactions
Mks1 interacts with 89 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process branching morphogenesis of an epithelial tube, cell projection organization, ...
Component cell projection, centriole, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (14)    Tissues (13)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 12
RT-PCR 2
cDNA source data(17)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mks1    NEW 
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000001434 (Evidence)
Ensembl Gene Model ENSMUSG00000034121 (Evidence)
Entrez Gene 380718 (Evidence)
UniGene 24404
DFCI TC1585063
DoTS DT.40146041, DT.101297665, DT.91443959
NIA Mouse Gene Index U013151
Consensus CDS Project CCDS36271.1
International Mouse Phenotyping Consortium Status Mks1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001434 VEGA Gene Model | MGI Sequence Detail 10589 C57BL/6J ±  kb
transcript OTTMUST00000002797 VEGA | MGI Sequence Detail 2499 Not Applicable 
polypeptide OTTMUSP00000001363 VEGA | MGI Sequence Detail 561 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(6) UniProt(4)
Polymorphisms
SNPs within 2kb(165 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010796 B9 domain
Protein Ontology PR:000010434 meckel syndrome type 1 protein
References
(Earliest) J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
(Latest) J:205269 Cui C, et al., Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol. 2013 Nov;11(11):e1001720
All references(39)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory