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Mks1 Gene Detail
Summary
  • Symbol
    Mks1
  • Name
    MKS transition zone complex subunit 1
  • Synonyms
    avc6, B8d3, Meckel syndrome, type 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3584243
    NCBI Gene: 380718
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:87744041-87754629 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 52.24 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    167 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 Chr11:87744007-87754629 (+)
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, MKS transition zone complex subunit 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MKS1, MKS transition zone complex subunit 1
  • Synonyms
    BBS13, JBTS28, MES, MKS, POC12
  • Links
    NCBI Gene ID: 54903
    neXtProt AC: NX_Q9NXB0
    UniProt: Q9NXB0

  • Chr Location
    17q22; chr17:58205441-58219605 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Mks1 mouse models; 4 with human MKS1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 3 models
IDs
 View 2 models
      
IDs
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
    112 phenotypes from 4 alleles in 7 genetic backgrounds
    27 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.
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
    56
  • GO References
    14
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    736
  • Tissues
    19
  • cDNA Data
    18
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 25
      cDNA 18
      Primer pair 6
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:4821845
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 7
      Diseases 5
      Gene Ontology 14
      Phenotypes 27
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory