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; chr17:56282797-56296966 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human MKS1

Alleles and phenotypes

All alleles(8) : Targeted(2) Gene trapped(4) Chemically induced(2)
 

Mice homozygous for an ENU-induced 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(2)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	branching morphogenesis of an epithelial tube, cell projection organization, ...
Component	cell projection, centrosome, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (14)    Tissues (13)    Images (7)
Theiler Stages: 23, 26

Assay Type	Results
RNA in situ	12
RT-PCR	2

cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress

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.101297665, DT.40146041, DT.91443959
NIA Mouse Gene Index	U013151
Consensus CDS Project	CCDS36271.1
International Mouse Knockout Project Status	Mks1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000001434	VEGA Gene Model | MGI Sequence Detail	10589	C57BL/6J
transcript	OTTMUST00000002797	VEGA | MGI Sequence Detail	2499	Not Applicable
polypeptide	OTTMUSP00000001363	VEGA | MGI Sequence Detail	561	Not Applicable

All sequences(35) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(87 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:178978 Chih B, et al., A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14(1):61-72
All references(37)