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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:125142514-125348417 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 61.38 cM, cytoband F
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5448 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95489
 protein coding gene Chr2:125142514-125349913 (-)
129S1/SvImJ ENSMUSG00200045724
 protein coding gene Chr2:122186987-122394505 (-)
A/J ENSMUSG00195029667
 protein coding gene Chr2:122218071-122425635 (-)
AKR/J ENSMUSG00220044613
 protein coding gene Chr2:121976078-122183615 (-)
BALB/cJ ENSMUSG00180047954
 protein coding gene Chr2:122005101-122212610 (-)
C3H/HeJ ENSMUSG00175036534
 protein coding gene Chr2:122500921-122704906 (-)
C57BL/6NJ ENSMUSG00215022851
 protein coding gene Chr2:122063041-122270446 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024226
 protein coding gene Chr2:118035996-118243670 (-)
CAST/EiJ ENSTCUG00005015849
 protein coding gene Chr2:121368679-121570766 (-)
CBA/J ENSMUSG00210029115
 protein coding gene Chr2:122349458-122553415 (-)
DBA/2J ENSMUSG00185030098
 protein coding gene Chr2:122003487-122207508 (-)
FVB/NJ ENSMUSG00205040441
 protein coding gene Chr2:121213587-121422975 (-)
JF1/MsJ ENSUMUG00000011031
 protein coding gene Chr2:121855286-122072805 (-)
LP/J ENSMUSG00230034515
 protein coding gene Chr2:123825488-124032999 (-)
NOD/ShiLtJ ENSMUSG00190014869
 protein coding gene Chr2:122181739-122385715 (-)
NZO/HlLtJ ENSMUSG00225002216
 protein coding gene Chr2:131731625-131939142 (-)
PWK/PhJ ENSLUMG00010047330
 protein coding gene Chr2:121771262-121974680 (-)
SPRET/EiJ ENSMSPG00010028768
 protein coding gene Chr2:124220766-124430706 (-)
WSB/EiJ ENSIUOG00005039132
 protein coding gene Chr2:121999357-122201812 (-)



Homology
more
  • Human Ortholog
    FBN1, fibrillin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FBN1, fibrillin 1
  • Synonyms
    ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
  • Links
    NCBI Gene ID: 2200
    UniProt: P35555

  • Chr Location
    15q21.1; chr15:48408313-48645721 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with Fbn1 mouse models; 12 with human FBN1 associations

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

  • Mutations/Alleles
    10 with disease annotations
  • References
    20 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    113 phenotypes from 14 alleles in 14 genetic backgrounds
    88 phenotypes from multigenic genotypes
    10 images
    299 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
    102
  • GO References
    27
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    793
  • Tissues
    123
  • cDNA Data
    37
  • Literature Summary
    51
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14118 NCBI Gene Model | MGI Sequence Detail 205904 C57BL/6J ±  kb
    transcript NM_007993 RefSeq | MGI Sequence Detail 9900 ZRU/MplStud  
    polypeptide Q61554 UniProt | EBI | MGI Sequence Detail 2873 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 5
      cDNA 43
      Primer pair 5
      Other 1
      Antibodies 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15276, MGD-MRK-9717, MGI:2138999, MGI:98850
    References
    more
    • Summaries
      All 443
      Developmental Gene Expression 51
      Diseases 20
      Gene Ontology 27
      Phenotypes 299
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:390469 Alarcon-Ruiz I, et al., Fibronectin-induced overactivation of alpha(V)beta(3)-PI3K-PIP3-PDK1-ILK signaling drives aortic disease in Marfan syndrome. Nat Commun. 2026 Jul 6;17(1)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory