About   Help   FAQ
Bbs1
Gene Detail
 Symbol
Name
ID
Bbs1
Bardet-Biedl syndrome 1 (human)
MGI:1277215
Synonyms D19Ertd609e
Feature Type protein coding gene
Genetic Map
Chromosome 19
4.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr19:4886898-4906627 bp, - strand
From Ensembl annotation of GRCm38

  19730 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11641  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Bbs1

Human
homologs
Human Homolog BBS1, Bardet-Biedl syndrome 1
NCBI Gene ID 582
neXtProt AC  NX_Q8NFJ9
Human Synonyms  BBS2L2
Human Chr (Location)  11q13; chr11:66510648-66533613 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BBS1
Alleles
and
phenotypes
All alleles(55) : Targeted(4) Gene trapped(51)
 
Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.
 
Human Diseases Modeled Using Mouse Bbs1 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)
Gene Ontology
(GO)
classifications
All GO classifications: (42 annotations)
Process adult behavior, brain morphogenesis, ...
Component BBSome, centrosome, ...
Function patched binding, phosphoprotein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (40)    Tissues (26)    Images (13)
Theiler Stages: 19, 23, 26, 28
Assay TypeResults
RNA in situ 38
RT-PCR 2
cDNA source data(29)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(31) cDNA(29) Primer pair(2)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000006464 (Evidence)
Entrez Gene52028 (Evidence)
UniGene23636
DFCITC1582728, TC1600927
DoTSDT.101176176, DT.483028, DT.91328171
NIA Mouse Gene IndexU239365
Consensus CDS ProjectCCDS29442.1
International Mouse Knockout Project StatusBbs1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000006464 Ensembl Gene Model | MGI Sequence Detail 19730 C57BL/6J ±  kb
transcript ENSMUST00000053506 Ensembl | MGI Sequence Detail 5581 Not Applicable 
polypeptide ENSMUSP00000055321 Ensembl | MGI Sequence Detail 593 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(170 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011047 Quinonprotein alcohol dehydrogenase-like superfamily
Protein Ontology PR:000004663 bardet-Biedl syndrome 1 protein
References (Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:194096 Carter CS, et al., Abnormal development of NG2+PDGFR-alpha+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Nat Med. 2012 Dec;18(12):1797-804
All references(50)
Other
accession IDs
MGI:2147549

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
04/08/2014
MGI 5.17
The Jackson Laboratory