Bbs1 MGI Mouse Gene Detail - MGI:1277215 - Bardet-Biedl syndrome 1

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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
  • 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
  • Genetic Map
    Chromosome 19, 4.14 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    715 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0024680
protein coding gene Chr19:1796337-1817637 (-)
A/J MGP_AJ_G0024646
protein coding gene Chr19:1706073-1725569 (-)
AKR/J MGP_AKRJ_G0024619
protein coding gene Chr19:1752374-1771865 (-)
BALB/cJ MGP_BALBcJ_G0024646
protein coding gene Chr19:1699354-1719179 (-)
C3H/HeJ MGP_C3HHeJ_G0024414
protein coding gene Chr19:1754085-1774390 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025093
protein coding gene Chr19:1850842-1870537 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022523
protein coding gene Chr19:1637186-1656674 (-)
CAST/EiJ MGP_CASTEiJ_G0023886
protein coding gene Chr19:1780476-1804457 (-)
CBA/J MGP_CBAJ_G0024385
protein coding gene Chr19:1925093-1951240 (-)
DBA/2J MGP_DBA2J_G0024513
protein coding gene Chr19:1672778-1692344 (-)
FVB/NJ MGP_FVBNJ_G0024480
protein coding gene Chr19:1694934-1714930 (-)
LP/J MGP_LPJ_G0024599
protein coding gene Chr19:1799058-1819995 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024510
protein coding gene Chr19:1825989-1845487 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025141
protein coding gene Chr19:1747506-1769619 (-)
PWK/PhJ MGP_PWKPhJ_G0023632
protein coding gene Chr19:1722539-1742266 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023437
protein coding gene Chr19:1736967-1756559 (-)
WSB/EiJ MGP_WSBEiJ_G0023948
protein coding gene Chr19:1754873-1774405 (-)



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; chr11:66510606-66533613 (+) GRCh38
Human Diseases
more
  • Diseases
    2 with Bbs1 mouse models; 2 with human BBS1 associations

Human Disease Mouse Models
IDs
Bardet-Biedl syndrome 1
View 3 models
Mouse Models

Human Disease Modeled: Bardet-Biedl syndrome 1

Allelic Composition Genetic Background Reference Phenotypes
Bbs1Gt1Nk/Bbs1Gt1Nk
involves: 129S7/SvEvBrd * C57BL/6J J:92950 View
Bbs1tm1Vcs/Bbs1tm1Vcs
involves: 129S1/Sv * 129X1/SvJ J:128532 View
Bbs1tm2Vcs/Bbs1tm2Vcs
Tg(Pdgfra-cre)1Clc/0
 involves: 129S6/SvEvTac * C57BL/6 J:194096 View
IDs
obesity

DOID:9970
EFO:0001073
ICD10CM:E66.9
ICD9CM:278.00
MESH:D009765
NCI:C159658
OMIM:601665
UMLS_CUI:C0028754

 View 1 model
Mouse Models

Human Disease Modeled: obesity

Allelic Composition Genetic Background Reference Phenotypes
Bbs1Gt1Nk/Bbs1Gt1Nk
involves: 129S7/SvEvBrd * C57BL/6J J:92950 View
IDs
Bardet-Biedl syndrome

DOID:1935
ICD10CM:Q87.89
MESH:D020788
NCI:C118632
OMIM:PS209900
ORDO:110
UMLS_CUI:C0752166
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
    42 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
  • GO References
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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
  • Tissues
  • cDNA Data
  • Literature Summary
    2
  • Comparison Matrix
    • 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
    • InterPro Domains
      IPR032728 Bardet-Biedl syndrome 1, N-terminal
      IPR028784 Bardet-Biedl syndrome 1 protein
      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 92
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 30
      Phenotypes 42
    • 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:362203 Zhao Y, et al., Adipocyte-specific disruption of the BBSome causes metabolic and autonomic dysfunction. Am J Physiol Regul Integr Comp Physiol. 2024 Jul 1;327(1):R54-R65
    TSS for Bbs1:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr157528 Chr19:4956626-4956660 (-) 13 bp
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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