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Eln Gene Detail
Summary
  • Symbol
    Eln
  • Name
    elastin
  • Synonyms
    E030024M20Rik, tropoelastin
  • Feature Type
    protein coding gene
  • IDs
    MGI:95317
    NCBI Gene: 13717
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:134731447-134776177 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 74.76 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1149 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95317
 protein coding gene Chr5:134731447-134776300 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030163
 protein coding gene Chr5:139138079-139182766 (-)
A/J MGP_AJ_G0030131
 protein coding gene Chr5:133225219-133270533 (-)
AKR/J MGP_AKRJ_G0030064
 protein coding gene Chr5:137544672-137593253 (-)
BALB/cJ MGP_BALBcJ_G0030141
 protein coding gene Chr5:134578426-134623070 (-)
C3H/HeJ MGP_C3HHeJ_G0029857
 protein coding gene Chr5:138096663-138142867 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030594
 protein coding gene Chr5:144374271-144422375 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027818
 protein coding gene Chr5:127510304-127555536 (-)
CAST/EiJ MGP_CASTEiJ_G0029266
 protein coding gene Chr5:137525384-137572247 (-)
CBA/J MGP_CBAJ_G0029827
 protein coding gene Chr5:150006761-150055588 (-)
DBA/2J MGP_DBA2J_G0029978
 protein coding gene Chr5:133117843-133162654 (-)
FVB/NJ MGP_FVBNJ_G0029933
 protein coding gene Chr5:132249604-132294174 (-)
LP/J MGP_LPJ_G0030066
 protein coding gene Chr5:139609710-139656179 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029965
 protein coding gene Chr5:153050675-153098318 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030634
 protein coding gene Chr5:137276589-137325051 (-)
PWK/PhJ MGP_PWKPhJ_G0028981
 protein coding gene Chr5:132156400-132202104 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028816
 protein coding gene Chr5:134855372-134899875 (-)
WSB/EiJ MGP_WSBEiJ_G0029340
 protein coding gene Chr5:138029420-138077488 (-)



Homology
more
  • Human Ortholog
    ELN, elastin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ELN, elastin
  • Synonyms
    ADCL1, SVAS, WBS, WS
  • Links
    NCBI Gene ID: 2006
    neXtProt AC: NX_P15502
    UniProt: P15502

  • Chr Location
    7q11.23; chr7:74027789-74069907 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Eln mouse models; 18 with human ELN associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 1 allele in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    3 images
    58 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1110
  • Tissues
    124
  • cDNA Data
    13
  • Literature Summary
    107
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029675 Ensembl Gene Model | MGI Sequence Detail 44731 C57BL/6J ±  kb
    transcript ENSMUST00000015138 Ensembl | MGI Sequence Detail 3853 Not Applicable  
    polypeptide ENSMUSP00000015138 Ensembl | MGI Sequence Detail 860 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 8
      cDNA 18
      Primer pair 11
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9357, MGI:2140853, MGI:2140912, MGI:2442008
    References
    more
    • Summaries
      All 220
      Developmental Gene Expression 107
      Diseases 5
      Gene Ontology 12
      Phenotypes 58
    • 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:353576 Lin Y, et al., Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation. Circulation. 2024 Feb 20;149(8):605-626
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory