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 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; chr20:10385428-10414887 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human MKKS

Alleles and phenotypes

All alleles(18) : Targeted(3) Gene trapped(15)
 

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(1)   

Gene Ontology (GO) classifications

All GO classifications: (37 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 Type	Results
RNA in situ	1
RT-PCR	2

cDNA source data(77)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1577098, TC1590612, TC1595800, TC1633675, TC1641421, TC1736959
NIA Mouse Gene Index	U023411
Consensus CDS Project	CCDS16794.1
International Mouse Knockout Project Status	Mkks

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015555	VEGA Gene Model | MGI Sequence Detail	17610	C57BL/6J
transcript	OTTMUST00000036952	VEGA | MGI Sequence Detail	3178	Not Applicable
polypeptide	OTTMUSP00000016579	VEGA | MGI Sequence Detail	570	Not Applicable

All sequences(48) RefSeq(4) UniProt(3)

Polymorphisms

SNPs(184 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002423	Chaperonin Cpn60/TCP-1
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:193003 Zhang Q, et al., Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem. 2012 Jun 8;287(24):20625-35
All references(52)

Other accession IDs

MGI:1914141, MGI:2138972, MGI:2139116