About   Help   FAQ
Mkks
Gene Detail
 Symbol
Name
ID
Mkks
McKusick-Kaufman syndrome
MGI:1891836
Synonyms 1300013E18Rik, Bbs6
Feature Type protein coding gene
Genetic Map
Chromosome 2
67.64 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:136873780-136891389 bp, - strand
From VEGA annotation of GRCm38

  17610 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10318  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Mkks

Human
homologs
Human Homolog MKKS, McKusick-Kaufman syndrome
NCBI Gene ID 8195
neXtProt AC  NX_Q9NPJ1
Human Synonyms  BBS6, HMCS, KMS, MKS
Human Chr (Location)  20p12; chr20:10404780-10434239 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human MKKS
Mutations,
alleles, and
phenotypes
All mutations/alleles(19) : Gene trapped(15) Radiation induced(1) Targeted(3)
Genomic Mutations involving Mkks (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Mkks (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Mkks interacts with 125 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process artery smooth muscle contraction, brain morphogenesis, ...
Component centrosome, cytoplasm, ...
Function ATP binding, nucleotide binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (3)    Tissues (2)   
Theiler Stages: 13, 18
Assay TypeResults
RNA in situ 1
RT-PCR 2
cDNA source data(77)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(78) cDNA(77) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000015555 (Evidence)
Ensembl Gene ModelENSMUSG00000027274 (Evidence)
Entrez Gene59030 (Evidence)
UniGene272570
DFCITC1577098, TC1590612, TC1595800, TC1633675, TC1641421, TC1736959
NIA Mouse Gene IndexU023411
Consensus CDS ProjectCCDS16794.1
International Mouse Knockout Project StatusMkks
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015555 VEGA Gene Model | MGI Sequence Detail 17610 C57BL/6J ±  kb
transcript OTTMUST00000036953 VEGA | MGI Sequence Detail 2935 Not Applicable 
polypeptide OTTMUSP00000016580 VEGA | MGI Sequence Detail 570 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(10) UniProt(3)
Polymorphisms SNPs within 2kb(253 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002423 Chaperonin Cpn60/TCP-1
InterPro IPR027409 GroEL-like apical domain
InterPro IPR027413 GroEL-like equatorial domain
Protein Ontology PR:000031665 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
References (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:201104 Hernandez-Hernandez V, et al., Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Hum Mol Genet. 2013 Oct 1;22(19):3858-68
All references(54)
Disease annotation references (1)
Other
accession IDs
MGI:1914141, MGI:2138972, MGI:2139116

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/09/2014
MGI 5.19
The Jackson Laboratory