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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 zebrafish

Gene Tree: Mks1

Human
homologs
Human Homolog MKS1, Meckel syndrome, type 1
NCBI Gene ID 54903
neXtProt AC  NX_Q9NXB0
Human Synonyms  BBS13, MES, MKS, POC12
Human Chr (Location)  17q22; chr17:58205436-58219605 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human MKS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(2) Gene trapped(4) Targeted(4)
Genomic Mutations involving Mks1 (2)
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 Using Mouse Mks1 (1)    Alleles Annotated to Human Diseases(4)   
Interactions
Mks1 interacts with 90 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 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)
Theiler Stages: 23, 26
Assay TypeResults
RNA in situ 12
RT-PCR 2
cDNA source data(17)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000001434 (Evidence)
Ensembl Gene ModelENSMUSG00000034121 (Evidence)
Entrez Gene380718 (Evidence)
UniGene24404
DFCITC1585063
DoTSDT.101297665, DT.40146041, DT.91443959
NIA Mouse Gene IndexU013151
Consensus CDS ProjectCCDS36271.1
International Mouse Knockout Project StatusMks1
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(40)
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
07/23/2014
MGI 5.19
The Jackson Laboratory