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Bbs7 Gene Detail
Summary
  • Symbol
    Bbs7
  • Name
    Bardet-Biedl syndrome 7 (human)
  • Synonyms
    8430406N16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918742
    NCBI Gene: 71492
  • Gene Overview
    MyGene.info: BBS7
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:36573142-36613477 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 17.72 cM, cytoband B
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    675 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918742
protein coding gene Chr3:36573142-36613492 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027162
protein coding gene Chr3:34376423-34424236 (-)
A/J MGP_AJ_G0027122
protein coding gene Chr3:33720983-33763837 (-)
AKR/J MGP_AKRJ_G0027091
protein coding gene Chr3:34342173-34380900 (-)
BALB/cJ MGP_BALBcJ_G0027134
protein coding gene Chr3:33477732-33515898 (-)
C3H/HeJ MGP_C3HHeJ_G0026877
protein coding gene Chr3:34401626-34443408 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027580
protein coding gene Chr3:36021910-36067648 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024941
protein coding gene Chr3:31420040-31455810 (-)
CAST/EiJ MGP_CASTEiJ_G0026330
protein coding gene Chr3:34250422-34297263 (-)
CBA/J MGP_CBAJ_G0026854
protein coding gene Chr3:37001368-37050347 (-)
DBA/2J MGP_DBA2J_G0026988
protein coding gene Chr3:33174848-33214158 (-)
FVB/NJ MGP_FVBNJ_G0026956
protein coding gene Chr3:32625957-32665934 (-)
LP/J MGP_LPJ_G0027100
protein coding gene Chr3:35159486-35206440 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026976
protein coding gene Chr3:39415859-39461802 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027639
protein coding gene Chr3:34178204-34226210 (-)
PWK/PhJ MGP_PWKPhJ_G0026063
protein coding gene Chr3:32822552-32861399 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025875
protein coding gene Chr3:33557656-33600428 (-)
WSB/EiJ MGP_WSBEiJ_G0026404
protein coding gene Chr3:34203939-34245402 (-)



Homology
more
  • Human Ortholog
    BBS7, Bardet-Biedl syndrome 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS7, Bardet-Biedl syndrome 7
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BBS2L1
  • Links
    NCBI Gene ID: 55212
    neXtProt AC: NX_Q8IWZ6
    UniProt: Q8IWZ6

  • Chr Location
    4q27; chr4:121824329-121870520 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human BBS7 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
    29 phenotypes from 2 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    16 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit partial preweaning lethality, retinal degeneration, obesity, ventriculomegaly, abnormal brain ependyma motile cilium morphology, and male infertility characterized by abnormal sperm flagellar axoneme structures.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037325 Ensembl Gene Model | MGI Sequence Detail 40336 C57BL/6J ±  kb
    transcript ENSMUST00000040148 Ensembl | MGI Sequence Detail 2599 Not Applicable  
    polypeptide ENSMUSP00000047273 Ensembl | MGI Sequence Detail 715 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 1
      cDNA 16
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 15
      Phenotypes 16
    • 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:246066 Sundberg JP, et al., Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PLoS One. 2017;12(7):e0180682

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory