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Mkks Gene Detail
 Symbol
Name
ID
Mkks
McKusick-Kaufman syndrome protein
MGI:1891836


Nomenclature History
Synonyms 1300013E18Rik, Bbs6
Genetic Map
Chromosome 2
Syntenic
 
Mapping data( 2)
Sequence Map
Chr2:136699516-136717125 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
TreeFam: TF329106
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000015555 VEGA Gene Model | MGI Sequence Detail 17610 C57BL/6J ± Kb
transcript NM_021527 RefSeq | MGI Sequence Detail 3215 C57BL/6
polypeptide Q9JI70 UniProt | EBI | MGI Sequence Detail 570 Not Applicable
For the selected sequences
All sequences(38)
Alleles
and
phenotypes
All alleles(11) : Targeted, knock-out(1) Gene trapped(10)
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.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (1)  
Polymorphisms SNPs within 2kb(189 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(22)
Process brain morphogenesis, cellular protein metabolic process...
Component motile secondary cilium
Function ATP binding, nucleotide binding...
External Resources: MouseFunc
Expression Literature Summary: (3 records)
Data Summary: Assays (2)    Results (3)    Tissues (2)
Theiler Stages: 13,18
  Assay Type Assays   Results
      RT-PCR 1   2
      RNA in situ 1   1
cDNA source data(74)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(76) Genomic(1) cDNA(74) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000027274
UniGene 272570
DFCI TC1577098, TC1590612, TC1595800, TC1633675, TC1641421, TC1736959
NIA Mouse Gene Index U023411
Entrez Gene 59030
VEGA Gene Model OTTMUSG00000015555
International Mouse Knockout Project Status Mkks
Protein
domains
InterPro ID Description
IPR002423 Chaperonin Cpn60/TCP-1
Graphical View of Protein Domain Structure
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:146158 Seo S et al., "Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling." Hum Mol Genet 2009 Apr 1;18(7):1323-31
All references(15)
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
11/20/2009
MGI_4.31
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The Jackson Laboratory