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Bbs12 Gene Detail
Summary
  • Symbol
    Bbs12
  • Name
    Bardet-Biedl syndrome 12
  • Synonyms
    LOC241950, LOC241950, LOC386537
  • Feature Type
    protein coding gene
  • IDs
    MGI:2686651
    NCBI Gene: 241950
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:37366703-37375602 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 18.41 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    6 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2686651
 protein coding gene Chr3:37366695-37383334 (+)
129S1/SvImJ ENSMUSG00200005473
 protein coding gene Chr3:34117650-34126588 (+)
A/J ENSMUSG00195001382
 protein coding gene Chr3:34087544-34096450 (+)
AKR/J ENSMUSG00220000476
 protein coding gene Chr3:34147512-34156459 (+)
BALB/cJ ENSMUSG00180002434
 protein coding gene Chr3:34221306-34230205 (+)
C3H/HeJ ENSMUSG00175003285
 protein coding gene Chr3:34117545-34126451 (+)
C57BL/6NJ ENSMUSG00215001469
 protein coding gene Chr3:34495311-34504210 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024948
 protein coding gene Chr3:32132026-32141156 (+)
CAST/EiJ ENSTCUG00005000817
 protein coding gene Chr3:33958610-33967498 (+)
CBA/J ENSMUSG00210001485
 protein coding gene Chr3:34175105-34184011 (+)
DBA/2J ENSMUSG00185001294
 protein coding gene Chr3:34373327-34382235 (+)
FVB/NJ ENSMUSG00205000394
 protein coding gene Chr3:33539640-33548539 (+)
JF1/MsJ ENSUMUG00000000308
 protein coding gene Chr3:33908451-33917350 (+)
LP/J ENSMUSG00230019914
 protein coding gene Chr3:36360565-36369505 (+)
NOD/ShiLtJ ENSMUSG00190001356
 protein coding gene Chr3:34415405-34424342 (+)
NZO/HlLtJ ENSMUSG00225006881
 protein coding gene Chr3:38971427-38980367 (+)
PWK/PhJ ENSLUMG00010000583
 protein coding gene Chr3:33953209-33962105 (+)
SPRET/EiJ ENSMSPG00010000499
 protein coding gene Chr3:34347254-34356118 (+)
WSB/EiJ ENSIUOG00005013115
 protein coding gene Chr3:34422632-34431558 (+)



Homology
more
  • Human Ortholog
    BBS12, Bardet-Biedl syndrome 12
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBS12, Bardet-Biedl syndrome 12
  • Synonyms
    C4orf24
  • Links
    NCBI Gene ID: 166379
    UniProt: Q6ZW61

  • Chr Location
    4q27; chr4:122700442-122744942 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human BBS12 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    15 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.
Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    6
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
    597
  • cDNA Data
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000051444 Ensembl Gene Model | MGI Sequence Detail 8900 C57BL/6J ±  kb
    transcript ENSMUST00000057975 Ensembl | MGI Sequence Detail 2433 Not Applicable  
    polypeptide ENSMUSP00000052179 Ensembl | MGI Sequence Detail 708 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004665 chaperonin-containing T-complex member BBS12
      (term hierarchy)
    • InterPro Domains
      IPR042984 Chaperonin-containing T-complex member BBS12
      IPR002423 Chaperonin Cpn60/GroEL/TCP-1 family
      IPR027409 GroEL-like apical domain superfamily
      IPR027413 GroEL-like equatorial domain superfamily
      IPR027410 TCP-1-like chaperonin intermediate domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 8

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2685253, MGI:2685567
    References
    more
    • Summaries
      All 38
      Diseases 1
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    09/15/2026
    MGI 6.29     		The Jackson Laboratory