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Fbn1 Gene Detail
Summary
  • Symbol
    Fbn1
  • Name
    fibrillin 1
  • Synonyms
    Fib-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95489
    NCBI Gene: 14118
  • Gene Overview
    MyGene.info: FBN1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:125300594-125507993 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      207400 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 61.38 cM, cytoband F
  • Mapping Data
    23 experiments
Homology
more
  • Human Ortholog
    FBN1, fibrillin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FBN1, fibrillin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
  • Links
    NCBI Gene ID: 2200
    neXtProt AC: NX_P35555
    UniProt: P35555

  • Chr Location
    15q21.1; chr15:48408306-48645788 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    5 with Fbn1 mouse models; 3 with human FBN1 associations

Human Disease Mouse Models
      
IDs
View 8 models
IDs
View 2 models
      
IDs
View 1 model
IDs
View 4 models
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    19 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    135 phenotypes from 13 alleles in 15 genetic backgrounds
    32 phenotypes from multigenic genotypes
    10 images
    151 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.
Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema. Mice heterozygous for a knock-in allele exhibit scleroderma.
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 OTTMUSG00000015332 VEGA Gene Model | MGI Sequence Detail 207400 C57BL/6J ±  kb
    transcript OTTMUST00000036335 VEGA | MGI Sequence Detail 9847 Not Applicable  
    polypeptide OTTMUSP00000016325 VEGA | MGI Sequence Detail 2873 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1762 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 5
      cDNA 39
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15276, MGD-MRK-9717, MGI:2138999, MGI:98850
    References
    more
    • Summaries
      All 232
      Developmental Gene Expression 26
      Diseases 19
      Gene Ontology 13
      Phenotypes 151
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:260742 Lino Cardenas CL, et al., An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm. Nat Commun. 2018 Mar 8;9(1):1009

    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
    05/08/2018
    MGI 6.12
    The Jackson Laboratory