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Dag1 Gene Detail
Summary
  • Symbol
    Dag1
  • Name
    dystroglycan 1
  • Synonyms
    alpha-dystroglycan, beta-dystroglycan, D9Wsu13e, DG, dystrophin associated glycoprotein 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:101864
    NCBI Gene: 13138
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:108082060-108141176 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 59.08 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1331 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101864
 protein coding gene Chr9:108081833-108141176 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035288
 protein coding gene Chr9:110142936-110207986 (-)
A/J MGP_AJ_G0035267
 protein coding gene Chr9:106110443-106172108 (-)
AKR/J MGP_AKRJ_G0035199
 protein coding gene Chr9:108764484-108823695 (-)
BALB/cJ MGP_BALBcJ_G0035261
 protein coding gene Chr9:105808066-105867345 (-)
C3H/HeJ MGP_C3HHeJ_G0034971
 protein coding gene Chr9:109156023-109216931 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035781
 protein coding gene Chr9:113120591-113188271 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032679
 protein coding gene Chr9:103546088-103604164 (-)
CAST/EiJ MGP_CASTEiJ_G0034282
 protein coding gene Chr9:109118762-109188888 (-)
CBA/J MGP_CBAJ_G0034939
 protein coding gene Chr9:117122240-117190275 (-)
DBA/2J MGP_DBA2J_G0035100
 protein coding gene Chr9:105567187-105627389 (-)
FVB/NJ MGP_FVBNJ_G0035048
 protein coding gene Chr9:104335086-104393994 (-)
LP/J MGP_LPJ_G0035176
 protein coding gene Chr9:110337623-110405391 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035087
 protein coding gene Chr9:118711175-118779635 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035802
 protein coding gene Chr9:109049425-109116354 (-)
PWK/PhJ MGP_PWKPhJ_G0033989
 protein coding gene Chr9:105889884-105949988 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033824
 protein coding gene Chr9:109094002-109160329 (-)
WSB/EiJ MGP_WSBEiJ_G0034403
 protein coding gene Chr9:108929210-108988543 (-)



Homology
more
  • Human Ortholog
    DAG1, dystroglycan 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DAG1, dystroglycan 1
  • Synonyms
    156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
  • Links
    NCBI Gene ID: 1605
    neXtProt AC: NX_Q14118
    UniProt: Q14118

  • Chr Location
    3p21.31; chr3:49468713-49535618 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Dag1 mouse models; 6 with human DAG1 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    70 phenotypes from 8 alleles in 11 genetic backgrounds
    9 phenotypes from multigenic genotypes
    65 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 mutant embryos show gross abnormalities, particularly defective Reichert''''s membrane by 6.5 days, indicating a possible role for this gene product in basement membrane organization. Homozygosity for the p.C667F mutation is partially prenatal lethal, with born mice showing mild muscle phenotypes in old age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    145
  • GO References
    30
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
    1300
  • Tissues
    303
  • cDNA Data
    21
  • Literature Summary
    65
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13138 NCBI Gene Model | MGI Sequence Detail 59117 C57BL/6J ±  kb
    transcript NM_010017 RefSeq | MGI Sequence Detail 5591 ZRU/MplStud  
    polypeptide Q62165 UniProt | EBI | MGI Sequence Detail 893 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 6
      cDNA 24
      Primer pair 7
      Other 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-18689, MGD-MRK-34097
    References
    more
    • Summaries
      All 237
      Developmental Gene Expression 65
      Diseases 3
      Gene Ontology 30
      Phenotypes 65
    • Earliest
      J:1875 Ohlendieck K, et al., Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol. 1991 Dec;115(6):1685-94
    • Latest
      J:350439 Tan RL, et al., The missense mutation C667F in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization. Dis Model Mech. 2024 Jun 1;17(6)
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory