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Eln
Gene Detail
Symbol

Name
ID
Eln
elastin
MGI:95317
Synonyms
E030024M20Rik, tropoelastin
Feature Type
protein coding gene
Genetic Map
Chromosome 5
74.76 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr5:134703781-134747241 bp, - strand
From Ensembl annotation of GRCm38

  43461 bp   ±  kb flank

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Mouse Genome Browser
Vertebrate
homology
HCOP human homology predictions: ELN
Gene Tree: Eln
Human
homologs
ELN, elastin
Orthology source: HGNC

IDs:
NCBI Gene ID: 2006
neXtProt AC: NX_P15502

Human Synonyms: SVAS, WBS, WS

Human Chr (Location): 7q11.23; chr7:74027772-74069907 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human ELN

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(3) Transgenic(2)
Genomic Mutations involving Eln (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for null allele die in the early postnatal period of an obstructive arterial disease. They exhibit a decrease in arterial diameter due to subendothelial accumulation of arterial smooth muscle, and display defective terminal airway development resulting in emphysematous morphology.
 
Human Diseases Modeled in Mice Using Eln (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(3)
Interactions
Eln interacts with 60 markers (Mir15a, Mir18b, Mir28b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (56 records)
Data Summary: Results (322)    Tissues (77)    Images (44)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 281
Northern blot 14
Western blot 12
RT-PCR 7
RNase protection 6
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN elna, elnb    NEW 
Molecular
reagents
All nucleic(29) Genomic(8) cDNA(16) Primer pair(5)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000029675 (Evidence)
Entrez Gene 13717 (Evidence)
DFCI TC1576081, TC1607289, TC1639995, TC1671124
NIA Mouse Gene Index U026806
Consensus CDS Project CCDS19725.1
International Mouse Phenotyping Consortium Status Eln
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000029675 Ensembl Gene Model | MGI Sequence Detail 43461 C57BL/6J ±  kb
transcript ENSMUST00000015138 Ensembl | MGI Sequence Detail 2583 Not Applicable 
polypeptide ENSMUSP00000015138 Ensembl | MGI Sequence Detail 860 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(8) UniProt(1)
Polymorphisms
All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(195 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003979 Tropoelastin
Protein Ontology PR:000007034 elastin
References
(Earliest) J:10990 Schurr E, et al., Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics. 1990 Nov;8(3):477-86
(Latest) J:218158 Turner CJ, et al., alpha5 and alphav integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo. Development. 2015 Feb 15;142(4):797-808
All references(122)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-9357, MGI:2140853, MGI:2140912, MGI:2442008

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory