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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Fbn1 ± 2 cM)

Protein SuperFamily: fibrillin
Gene Tree: Fbn1

Human ortholog

FBN1 fibrillin 1 NCBI Gene ID 2200
Human Synonyms: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
Human Chr15:48700503-48937985 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human FBN1 (7)

Alleles and phenotypes

All alleles(12) : Targeted(11) 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.

 
Human Diseases Modeled Using Mouse Fbn1 (5)    Alleles Annotated to Human Diseases(7)    Phenotype Images(10)

Gene Ontology (GO) classifications

All GO classifications: (17 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 (89)    Tissues (46)    Images (6)
Theiler Stages: 20, 21, 26, 28

Assay Type	Results
RNA in situ	39
Northern blot	24
Western blot	8
RT-PCR	18

cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(48) Genomic(5) cDNA(39) Primer pair(3) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000015332 (Evidence)
Ensembl Gene Model	ENSMUSG00000027204 (Evidence)
Entrez Gene	14118 (Evidence)
DFCI	TC1575148, TC1589711, TC1717187, TC1729100
DoTS	DT.101722245, DT.494681, DT.94347703, DT.97414262
NIA Mouse Gene Index	U023291
Consensus CDS Project	CCDS16676.1
International Mouse Knockout Project Status	Fbn1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015332	VEGA Gene Model | MGI Sequence Detail	207400	C57BL/6J
transcript	OTTMUST00000036335	VEGA | MGI Sequence Detail	9847	Not Applicable
polypeptide	OTTMUSP00000016325	VEGA | MGI Sequence Detail	2873	Not Applicable

All sequences(44) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(7) : SNPs(1269 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	Growth factor, receptor
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:192341 Honda N, et al., miR-150 down-regulation contributes to the constitutive type I collagen overexpression in scleroderma dermal fibroblasts via the induction of integrin beta3. Am J Pathol. 2013 Jan;182(1):206-16
All references(183)

Other accession IDs

MGD-MRK-15276, MGD-MRK-9717, MGI:2138999, MGI:98850