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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
Gene Tree: Eln
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Genomic Mutations involving Eln (1)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Eln (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)
Interactions
Eln interacts with 60 markers (Mir15a, Mir18b, Mir28b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process extracellular matrix organization, regulation of actin filament polymerization, ...
Component elastic fiber, extracellular region, ...
Function extracellular matrix binding, extracellular matrix structural constituent, ...
External Resources: FuncBase
Expression
Literature Summary: (48 records)
Data Summary: Results (321)    Tissues (74)    Images (42)
Theiler Stages: 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 282
Northern blot 14
Western blot 12
RT-PCR 7
RNase protection 6
cDNA source data(11)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(29) Genomic(8) cDNA(16) Primer pair(5)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000029675 (Evidence)
Entrez Gene13717 (Evidence)
DFCITC1576081, TC1607289, TC1639995, TC1671124
DoTSDT.101121883, DT.101155420, DT.492593, DT.91421740, DT.94271980
NIA Mouse Gene IndexU026806
Consensus CDS ProjectCCDS19725.1
International Mouse Knockout Project StatusEln
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(32) RefSeq(4) 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:210370 Steinhart MR, et al., Susceptibility to glaucoma damage related to age and connective tissue mutations in mice. Exp Eye Res. 2014 Feb;119:54-60
All references(117)
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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last database update
07/23/2014
MGI 5.18
The Jackson Laboratory