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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

HCOP human homology predictions: MKKS
Gene Tree: Mkks

Human
homologs
MKKS, McKusick-Kaufman syndrome
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8195
neXtProt AC: NX_Q9NPJ1

Human Synonyms: BBS6, HMCS, KMS, MKS

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

Disease Associations: (3) 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 , CvDC )
 
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 in Mice Using Mkks (2)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Mkks interacts with 125 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process artery smooth muscle contraction, brain morphogenesis, ...
Component centrosome, ciliary basal body, ...
Function ATP binding, nucleotide binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (3)    Tissues (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
RT-PCR 2
cDNA source data(77)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mkks ; ZFIN mkks    NEW 
Molecular
reagents
All nucleic(78) cDNA(77) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000015555 (Evidence)
Ensembl Gene Model ENSMUSG00000027274 (Evidence)
Entrez Gene 59030 (Evidence)
UniGene 272570
DFCI TC1641421, TC1633675, TC1595800, TC1590612, TC1577098, TC1736959
NIA Mouse Gene Index U023411
Consensus CDS Project CCDS16794.1
International Mouse Phenotyping Consortium Status Mkks
Sequences
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 sequences
All sequences(57) RefSeq(12) 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(52)
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
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory