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Bbs1 Gene Detail
Summary
  • Symbol
    Bbs1
  • Name
    Bardet-Biedl syndrome 1
  • Synonyms
    D19Ertd609e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277215
    NCBI Gene: 52028
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:4936906-4956656 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 4.14 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    715 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277215
 protein coding gene Chr19:4936906-4956681 (-)
129S1/SvImJ ENSMUSG00200050275
 protein coding gene Chr19:1697265-1717016 (-)
A/J ENSMUSG00195052342
 protein coding gene Chr19:2086970-2106488 (-)
AKR/J ENSMUSG00220048399
 protein coding gene Chr19:1860025-1879544 (-)
BALB/cJ ENSMUSG00180048199
 protein coding gene Chr19:2461689-2481209 (-)
C3H/HeJ ENSMUSG00175009151
 protein coding gene Chr19:1706424-1725942 (-)
C57BL/6NJ ENSMUSG00215045267
 protein coding gene Chr19:1935419-1955171 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022523
 protein coding gene Chr19:1637186-1656674 (-)
CAST/EiJ ENSTCUG00005025076
 protein coding gene Chr19:1857687-1877258 (-)
CBA/J ENSMUSG00210041519
 protein coding gene Chr19:1712238-1731776 (-)
DBA/2J ENSMUSG00185042444
 protein coding gene Chr19:2088705-2108245 (-)
FVB/NJ ENSMUSG00205026508
 protein coding gene Chr19:2088415-2108176 (-)
JF1/MsJ ENSUMUG00000046902
 protein coding gene Chr19:2076210-2095916 (-)
LP/J ENSMUSG00230052211
 protein coding gene Chr19:3004210-3023962 (-)
NOD/ShiLtJ ENSMUSG00190044138
 protein coding gene Chr19:1627950-1647467 (-)
NZO/HlLtJ ENSMUSG00225026282
 protein coding gene Chr19:6712964-6732716 (-)
PWK/PhJ ENSLUMG00010006225
 protein coding gene Chr19:1840606-1860142 (-)
SPRET/EiJ ENSMSPG00010042817
 protein coding gene Chr19:1838613-1855570 (-)
WSB/EiJ ENSIUOG00005038442
 protein coding gene Chr19:1723329-1742884 (-)



Homology
more
  • Human Ortholog
    BBS1, Bardet-Biedl syndrome 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBS1, Bardet-Biedl syndrome 1
  • Synonyms
    BBS2L2
  • Links
    NCBI Gene ID: 582
    UniProt: Q8NFJ9

  • Chr Location
    11q13.2; chr11:66510606-66533630 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Bbs1 mouse models; 2 with human BBS1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    53 phenotypes from 4 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    4 images
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    86
  • GO References
    28
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    637
  • Tissues
    26
  • cDNA Data
    30
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006464 Ensembl Gene Model | MGI Sequence Detail 19751 C57BL/6J ±  kb
    transcript ENSMUST00000053506 Ensembl | MGI Sequence Detail 5602 Not Applicable  
    polypeptide ENSMUSP00000055321 Ensembl | MGI Sequence Detail 593 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000004663 BBSome complex member BBS1
      (term hierarchy)
    • InterPro Domains
      IPR032728 Bardet-Biedl syndrome 1, N-terminal
      IPR056419 Bardet-Biedl syndrome 1 protein, GAE domain
      IPR028784 BBSome complex member BBS1
      IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily
    • GlyGen
      Q3V3N7 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 30
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147549
    References
    more
    • Summaries
      All 100
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 28
      Phenotypes 49
    • 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:376989 Laule C, et al., The brainstem BBSome regulates glucose homeostasis and lean mass in a state-dependent manner. Mol Metab. 2025 Jul 29;100:102222
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory