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Mkks Gene Detail
Summary
  • Symbol
    Mkks
  • Name
    McKusick-Kaufman syndrome
  • Synonyms
    1300013E18Rik, Bbs6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891836
    NCBI Gene: 59030
Location & Maps
more
  • Sequence Map
    Chr2:136873780-136891389 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17610 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MKKS, McKusick-Kaufman syndrome
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MKKS, McKusick-Kaufman syndrome
    Orthology source: HomoloGene
  • Synonyms
    BBS6, HMCS, KMS, MKS
  • Links
    NCBI Gene ID: 8195
    neXtProt AC: NX_Q9NPJ1

  • Chr Location
    20p12; chr20:10404780-10434239 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 10318
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MKKS
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Mkks mouse models; 3 with human MKKS associations

Human Disease Mouse Models
       Bardet-Biedl Syndrome 6; BBS6   OMIM: 605231 View 1 model
McKusick-Kaufman Syndrome; MKKS   OMIM: 236700 View 1 "NOT" model
       Obesity   OMIM: 601665 View 1 model
       Bardet-Biedl Syndrome 1; BBS1   OMIM: 209900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 2 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    21
  • Chemically induced (other)
    1
  • Gene trapped
    15
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    3 involving Mkks
  • Incidental Mutations
Homozygous null mice display partial embryonic lethality, retinal degeneration, obesity, increased food intake, hypoactivity, increased blood pressure, male infertility with the absence of flagella on spermatozoa, decreased aggression, and impaired olfaction but, do not display limb deformities.
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
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015555 VEGA Gene Model | MGI Sequence Detail 17610 C57BL/6J ±  kb
transcript OTTMUST00000036952 VEGA | MGI Sequence Detail 3178 Not Applicable  
polypeptide OTTMUSP00000016579 VEGA | MGI Sequence Detail 570 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    253 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000031665 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
  • InterPro Domains
    IPR002423 Chaperonin Cpn60/TCP-1 family
    IPR027409 GroEL-like apical domain
    IPR027413 GroEL-like equatorial domain
    IPR028790 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Molecular
Reagents
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  • All nucleic 78
    cDNA 77
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:1914141, MGI:2138972, MGI:2139116
References
more
  • Summaries
    All 51
    Developmental Gene Expression 3
    Diseases 3
    Gene Ontology 16
    Phenotypes 39
  • Earliest
    J:59030 Awwad JT, et al., The SCID mouse: an experimental model for endometriosis. Hum Reprod. 1999 Dec;14(12):3107-11
  • Latest
    J:224863 Starks RD, et al., Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. PLoS Genet. 2015 Jun;11(6):e1005311

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
02/02/2016
MGI 6.02
The Jackson Laboratory