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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
Location & Maps
more
  • Sequence Map
    Chr3:36573142-36613477 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      40336 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 17.72 cM, cytoband B
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    BBS7, Bardet-Biedl syndrome 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BBS7, Bardet-Biedl syndrome 7
    Orthology source: HomoloGene, HGNC
  • 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
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  • 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
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 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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 OTTMUSG00000006487 VEGA Gene Model | MGI Sequence Detail 40336 C57BL/6J ±  kb
    transcript OTTMUST00000014833 VEGA | MGI Sequence Detail 2599 Not Applicable  
    polypeptide OTTMUSP00000006889 VEGA | MGI Sequence Detail 715 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      675 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 1
      cDNA 15
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 14
      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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory