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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
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
Homology
more
  • Human Ortholog
    FBN1, fibrillin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FBN1, fibrillin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
  • Links
    NCBI Gene ID: 2200
    neXtProt AC: NX_P35555

  • Chr Location
    15q21.1; chr15:48408306-48645788 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Fbn1 mouse models; 7 with human FBN1 associations

Human Disease Mouse Models
       Marfan Syndrome; MFS   OMIM: 154700 View 8 models
Weill-Marchesani Syndrome 2; WMS2   OMIM: 608328 View 2 models
       Emphysema, Hereditary Pulmonary   OMIM: 130700 View 4 models
Scleroderma, Familial Progressive   OMIM: 181750 View 3 models
       Acromicric Dysplasia; ACMICD   OMIM: 102370
Ectopia Lentis 1, Isolated, Autosomal Dominant; ECTOL1   OMIM: 129600
Geleophysic Dysplasia 2; GPHYSD2   OMIM: 614185
MASS Syndrome   OMIM: 604308
Stiff Skin Syndrome; SSKS   OMIM: 184900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    24 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    136 phenotypes from 13 alleles in 15 genetic backgrounds
    32 phenotypes from multigenic genotypes
    10 images
    128 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    13
  • Transgenic
    2
  • Genomic Mutations
    4 involving Fbn1
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    1770 from dbSNP Build 137
  • 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
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MGD-MRK-15276, MGD-MRK-9717, MGI:2138999, MGI:98850
References
more
  • Summaries
    All 194
    Developmental Gene Expression 23
    Diseases 24
    Gene Ontology 9
    Phenotypes 128
  • Earliest
    J:27521 Green MC, et al., Tight skin (Tsk). Mouse News Lett. 1973;48:34
  • Latest
    J:227267 Zilberberg L, et al., Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome. Proc Natl Acad Sci U S A. 2015 Nov 10;112(45):14012-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory