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Fbn1 Gene Detail
 Symbol
Name
ID
Fbn1
fibrillin 1
MGI:95489


Nomenclature History
Synonyms Fib-1
Genetic Map
Chromosome 2
71.0 cM, cytoband F
Detailed Genetic Map ± 1 cM
 
Mapping data( 23)

Sequence Map
Chr2:125126330-125333729 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Fbn1 ± 2 cM)
Protein SuperFamily: fibrillin
TreeFam: TF316849
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000015332 VEGA Gene Model | MGI Sequence Detail 207400 C57BL/6J ± Kb
transcript NM_007993 RefSeq | MGI Sequence Detail 9900 C57BL/6
polypeptide Q61554 UniProt | EBI | MGI Sequence Detail 2871 Not Applicable
For the selected sequences
All sequences(33)
Alleles
and
phenotypes
All alleles(5) : Targeted, knock-out(3) Targeted, other(1) Spontaneous(1)
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.
Associated Human Diseases (4)   Alleles Annotated to Human Diseases (5)   Phenotype Images (6)  
Polymorphisms RFLP(7) SNPs within 2kb(1289 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(8)
Component extracellular region, microfibril...
Function binding, calcium ion binding...
External Resources: MouseFunc
Expression Literature Summary: (12 records)
Data Summary: Assays (5)    Results (48)    Tissues (11)    Images (1)
Theiler Stages: 20,26,28
  Assay Type Assays   Results
      Western blot 1   8
      RT-PCR 2   16
      Northern blot 2   24
cDNA source data(31)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(44) Genomic(5) cDNA(36) Primer pair(2) Other(1) Antibodies(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000027204
DoTS DT.101722245, DT.494681, DT.94347703, DT.97414262
DFCI TC1575148, TC1589711, TC1717187, TC1729100
NIA Mouse Gene Index U023291
Entrez Gene 14118
VEGA Gene Model OTTMUSG00000015332
International Mouse Knockout Project Status Fbn1
Protein
domains
InterPro ID Description
IPR000152 EGF-type aspartate/asparagine hydroxylation site
IPR000742 EGF-like, type 3
IPR001881 EGF-like calcium-binding
IPR002212 Matrix fibril-associated
IPR002557 Chitin binding protein, peritrophin-A
IPR006209 EGF
IPR006210 EGF-like
IPR008985 Concanavalin A-like lectin/glucanase
IPR009030 Growth factor, receptor
IPR011398 Fibrillin
IPR013032 EGF-like region, conserved site
IPR013091 EGF calcium-binding
IPR013111 EGF, extracellular
IPR017878 TGF-beta binding
IPR018097 EGF-like calcium-binding, conserved site
Graphical View of Protein Domain Structure
References
(Earliest) J:27521 Green MC et al., "Tight skin (Tsk)" Mouse News Lett 1973;48():34
(Latest) J:149984 Podowski M et al., "Complex integration of matrix, oxidative stress, and apoptosis in genetic emphysema." Am J Pathol 2009 Jul;175(1):84-96
All references(124)
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
11/20/2009
MGI_4.31
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The Jackson Laboratory