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; chr11:66278119-66301084 (+)  GRCh37.p10
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: (38 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 Type	Results
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 Model	ENSMUSG00000006464 (Evidence)
Entrez Gene	52028 (Evidence)
UniGene	23636
DFCI	TC1582728, TC1600927
DoTS	DT.101176176, DT.483028, DT.91328171
NIA Mouse Gene Index	U239365
Consensus CDS Project	CCDS29442.1
International Mouse Knockout Project Status	Bbs1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000006464	Ensembl Gene Model | MGI Sequence Detail	19730	C57BL/6J
transcript	ENSMUST00000053506	Ensembl | MGI Sequence Detail	5581	Not Applicable
polypeptide	ENSMUSP00000055321	Ensembl | MGI Sequence Detail	593	Not Applicable

All sequences(28) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(107 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(49)

Other accession IDs

MGI:2147549