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Mks1 Gene Detail
Summary
  • Symbol
    Mks1
  • Name
    Meckel syndrome, type 1
  • Synonyms
    B8d3
  • Feature Type
    protein coding gene
  • IDs
    MGI:3584243
    NCBI Gene: 380718
  • Gene Overview
    MyGene.info: MKS1
Location & Maps
more
  • Sequence Map
    Chr11:87853215-87863803 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10589 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 52.24 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    MKS1, Meckel syndrome, type 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MKS1, Meckel syndrome, type 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BBS13, JBTS28, MES, MKS, POC12
  • Links
    NCBI Gene ID: 54903
    neXtProt AC: NX_Q9NXB0

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

  • HomoloGene
    Vertebrate Homology Class 9833
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: MKS1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Mks1 mouse models; 3 with human MKS1 associations

Human Disease Mouse Models
       Meckel Syndrome, Type 1; MKS1   OMIM: 249000 View 3 models
       Bardet-Biedl Syndrome 13; BBS13   OMIM: 615990
Joubert Syndrome 28; JBTS28   OMIM: 617121
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    108 phenotypes from 3 alleles in 6 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Targeted
    5
  • Genomic Mutations
    4 involving Mks1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    164 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    cDNA 17
    Primer pair 3

    Microarray probesets 2
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 11
    Phenotypes 18
  • 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

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
11/29/2016
MGI 6.06
The Jackson Laboratory