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Utrn Gene Detail
Summary
  • Symbol
    Utrn
  • Name
    utrophin
  • Synonyms
    Dmdl, DRP, G-utrophin
  • Feature Type
    protein coding gene
  • IDs
    MGI:104631
    NCBI Gene: 22288
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:12257932-12745109 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 3.77 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    15179 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104631
 protein coding gene Chr10:12257931-12745632 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017015
 protein coding gene Chr10:9743964-10253298 (-)
A/J MGP_AJ_G0016993
 protein coding gene Chr10:9330337-9860939 (-)
AKR/J MGP_AKRJ_G0016957
 protein coding gene Chr10:9597660-10095174 (-)
BALB/cJ MGP_BALBcJ_G0016951
 protein coding gene Chr10:9378140-9862939 (-)
C3H/HeJ MGP_C3HHeJ_G0016776
 protein coding gene Chr10:9740928-10244886 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017413
 protein coding gene Chr10:10020269-10533130 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015118
 protein coding gene Chr10:8641032-9134273 (-)
CAST/EiJ MGP_CASTEiJ_G0016358
 protein coding gene Chr10:9571492-10077640 (-)
CBA/J MGP_CBAJ_G0016748
 protein coding gene Chr10:10370534-10906130 (-)
DBA/2J MGP_DBA2J_G0016856
 protein coding gene Chr10:9283589-9765854 (-)
FVB/NJ MGP_FVBNJ_G0016851
 protein coding gene Chr10:9124143-9615409 (-)
LP/J MGP_LPJ_G0016931
 protein coding gene Chr10:9597823-10095460 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016881
 protein coding gene Chr10:10317366-10834975 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017451
 protein coding gene Chr10:9482705-9974206 (-)
PWK/PhJ MGP_PWKPhJ_G0016143
 protein coding gene Chr10:9139163-9639261 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015926
 protein coding gene Chr10:9584370-10089877 (-)
WSB/EiJ MGP_WSBEiJ_G0016420
 protein coding gene Chr10:9510958-10004295 (-)



Homology
more
  • Human Ortholog
    UTRN, utrophin
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UTRN, utrophin
  • Synonyms
    DMDL, DRP, DRP1
  • Links
    NCBI Gene ID: 7402
    neXtProt AC: NX_P46939
    UniProt: P46939

  • Chr Location
    6q24.2; chr6:144285335-144853034 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 3 genetic backgrounds
    37 phenotypes from multigenic genotypes
    134 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.
Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    15
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
    1053
  • Tissues
    128
  • cDNA Data
    24
  • Literature Summary
    28
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019820 Ensembl Gene Model | MGI Sequence Detail 487178 C57BL/6J ±  kb
    transcript ENSMUST00000218635 Ensembl | MGI Sequence Detail 11801 Not Applicable  
    polypeptide ENSMUSP00000151431 Ensembl | MGI Sequence Detail 3430 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 3
      cDNA 29
      Primer pair 1
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-26068, MGD-MRK-8870, MGI:2143500
    References
    more
    • Summaries
      All 247
      Developmental Gene Expression 28
      Diseases 4
      Gene Ontology 15
      Phenotypes 134
    • Earliest
      J:28687 Love DR, et al., An autosomal transcript in skeletal muscle with homology to dystrophin. Nature. 1989 May 4;339(6219):55-8
    • Latest
      J:354064 Lin Y, et al., Characterization of the Ang/Tie2 Signaling Pathway in the Diaphragm Muscle of DMD Mice. Biomedicines. 2023 Aug 14;11(8)
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory