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Fbn1
Gene Detail
Symbol

Name
ID
Fbn1
fibrillin 1
MGI:95489
Synonyms
Fib-1
Feature Type
protein coding gene
Genetic Map
Chromosome 2
61.38 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(23)
Sequence Map
Chr2:125300594-125507993 bp, - strand
From VEGA annotation of GRCm38

  207400 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30958  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: fibrillin
Gene Tree: Fbn1

Human
homologs
Human Homolog FBN1, fibrillin 1
NCBI Gene ID 2200
neXtProt AC  NX_P35555
Human Synonyms  ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
Human Chr (Location)  15q21.1; chr15:48408306-48645788 (-)  GRCh38
Disease Associations  (7) Diseases Associated with Human FBN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Spontaneous(1) Targeted(13)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Fbn1 (4)    Alleles Annotated to Human Diseases(9)    Phenotype Images(10)
Interactions
Fbn1 interacts with 322 markers (Mir1a-1, Mir1a-2, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process heart development, kidney development, ...
Component basement membrane, extracellular matrix, ...
Function calcium ion binding, extracellular matrix structural constituent, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (91)    Tissues (47)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 39
Northern blot 24
Western blot 8
RT-PCR 20
cDNA source data(34)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(49) Genomic(5) cDNA(39) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000015332 (Evidence)
Ensembl Gene ModelENSMUSG00000027204 (Evidence)
Entrez Gene14118 (Evidence)
DFCITC1575148, TC1589711, TC1717187, TC1729100
DoTSDT.101722245, DT.494681, DT.94347703, DT.97414262
NIA Mouse Gene IndexU023291
Consensus CDS ProjectCCDS16676.1
International Mouse Knockout Project StatusFbn1
Sequences
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 sequences
All sequences(47) RefSeq(5) UniProt(8)
Polymorphisms
RFLP(7) : SNPs within 2kb(1770 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002557 Chitin binding domain
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR011398 Fibrillin
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR017878 TB domain
Protein Ontology PR:000007362 fibrillin-1
References
(Earliest) J:27521 Green MC, et al., Tight skin (Tsk). Mouse News Lett. 1973;48:34
(Latest) J:207994 Li W, et al., Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. J Clin Invest. 2014 Feb 3;124(2):755-67
All references(188)
Disease annotation references (20)
Other
accession IDs
MGD-MRK-15276, MGD-MRK-9717, MGI:2138999, MGI:98850

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
10/08/2014
MGI 5.20
The Jackson Laboratory