About   Help   FAQ
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
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
    4 with Fbn1 mouse models; 2 with human FBN1 associations

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

  • Mutations/Alleles
    9 with disease annotations
  • References
    28 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    135 phenotypes from 13 alleles in 15 genetic backgrounds
    32 phenotypes from multigenic genotypes
    10 images
    139 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
less
  • 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
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
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 213
    Developmental Gene Expression 24
    Diseases 28
    Gene Ontology 13
    Phenotypes 139
  • Earliest
    J:27521 Green MC, et al., Tight skin (Tsk). Mouse News Lett. 1973;48:34
  • Latest
    J:239423 Walji TA, et al., Characterization of metabolic health in mouse models of fibrillin-1 perturbation. Matrix Biol. 2016 Sep;55:63-76

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/18/2017
MGI 6.08
The Jackson Laboratory