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Mks1 Gene Detail
Summary
  • Symbol
    Mks1
  • Name
    Meckel syndrome, type 1
  • Synonyms
    avc6, B8d3
  • Feature Type
    protein coding gene
  • IDs
    MGI:3584243
    NCBI Gene: 380718
  • Gene Overview
    MyGene.info: MKS1
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:87853215-87863803 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 52.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    164 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3584243
protein coding gene Chr11:87852929-87863803 (.)
129S1/SvImJ MGP_129S1SvImJ_G0018914
protein coding gene Chr11:89492412-89503030 (+)
A/J MGP_AJ_G0018881
protein coding gene Chr11:86047798-86058416 (+)
AKR/J MGP_AKRJ_G0018851
protein coding gene Chr11:88612717-88623335 (+)
BALB/cJ MGP_BALBcJ_G0018854
protein coding gene Chr11:86448510-86459128 (+)
C3H/HeJ MGP_C3HHeJ_G0018668
protein coding gene Chr11:88665583-88676201 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019306
protein coding gene Chr11:92207646-92218234 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016939
protein coding gene Chr11:83075695-83086307 (+)
CAST/EiJ MGP_CASTEiJ_G0018223
protein coding gene Chr11:89355715-89366323 (+)
CBA/J MGP_CBAJ_G0018639
protein coding gene Chr11:96096200-96106818 (+)
DBA/2J MGP_DBA2J_G0018747
protein coding gene Chr11:85600130-85610748 (+)
FVB/NJ MGP_FVBNJ_G0018736
protein coding gene Chr11:85106246-85116864 (+)
LP/J MGP_LPJ_G0018817
protein coding gene Chr11:89991812-90002430 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018763
protein coding gene Chr11:96135617-96146235 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019346
protein coding gene Chr11:88864323-88874942 (+)
PWK/PhJ MGP_PWKPhJ_G0017993
protein coding gene Chr11:86444586-86455173 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017786
protein coding gene Chr11:88420300-88430832 (+)
WSB/EiJ MGP_WSBEiJ_G0018274
protein coding gene Chr11:88752280-88762900 (+)



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
    UniProt: Q9NXB0

  • Chr Location
    17q22; chr17:58205436-58219605 (-)  GRCh38.p7

  • 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
    3 with Mks1 mouse models; 3 with human MKS1 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 3 models
IDs
View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    111 phenotypes from 4 alleles in 7 genetic backgrounds
    21 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034121 Ensembl Gene Model | MGI Sequence Detail 10589 C57BL/6J ±  kb
    transcript ENSMUST00000038196 Ensembl | MGI Sequence Detail 2499 Not Applicable  
    polypeptide ENSMUSP00000043790 Ensembl | MGI Sequence Detail 561 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 18
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:4821845
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 5
      Diseases 5
      Gene Ontology 12
      Phenotypes 21
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:246522 Goetz SC, et al., The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. PLoS One. 2017;12(3):e0173399

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory