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Dync1h1 Gene Detail
Summary
  • Symbol
    Dync1h1
  • Name
    dynein cytoplasmic 1 heavy chain 1
  • Synonyms
    9930018I23Rik, Dnchc1, Dnec1, dynein heavy chain, retrograde transport, Loa, MAP1C, mKIAA0325, Swl
  • Feature Type
    protein coding gene
  • IDs
    MGI:103147
    NCBI Gene: 13424
  • Gene Overview
    MyGene.info: DYNC1H1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:110601452-110666945 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 60.70 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    612 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103147
protein coding gene Chr12:110601395-110666945 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020118
protein coding gene Chr12:112908033-112982386 (+)
A/J MGP_AJ_G0020072
protein coding gene Chr12:108526746-108592350 (+)
AKR/J MGP_AKRJ_G0020048
protein coding gene Chr12:111706041-111775440 (+)
BALB/cJ MGP_BALBcJ_G0020058
protein coding gene Chr12:109011554-109077321 (+)
C3H/HeJ MGP_C3HHeJ_G0019860
protein coding gene Chr12:112156594-112230280 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020503
protein coding gene Chr12:116354448-116426264 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018115
protein coding gene Chr12:105042063-105107814 (+)
CAST/EiJ MGP_CASTEiJ_G0019401
protein coding gene Chr12:107055244-107110852 (+)
CBA/J MGP_CBAJ_G0019827
protein coding gene Chr12:120898983-120976646 (+)
DBA/2J MGP_DBA2J_G0019944
protein coding gene Chr12:108076193-108142048 (+)
FVB/NJ MGP_FVBNJ_G0019929
protein coding gene Chr12:106872380-106938670 (+)
LP/J MGP_LPJ_G0020019
protein coding gene Chr12:112743490-112811682 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019967
protein coding gene Chr12:124027992-124099367 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020532
protein coding gene Chr12:111194677-111265404 (+)
PWK/PhJ MGP_PWKPhJ_G0019161
protein coding gene Chr12:102697801-102766549 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018965
protein coding gene Chr12:105360287-105430716 (+)
WSB/EiJ MGP_WSBEiJ_G0019459
protein coding gene Chr12:112103120-112171922 (+)



Homology
more
  • Human Ortholog
    DYNC1H1, dynein cytoplasmic 1 heavy chain 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DYNC1H1, dynein cytoplasmic 1 heavy chain 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT2O, DHC1, DHC1a, DNCH1, Dnchc1, DNCL, DNECL, DYHC, HL-3, p22, SMALED1
  • Links
    NCBI Gene ID: 1778
    neXtProt AC: NX_Q14204
    UniProt: Q14204

  • Chr Location
    14q32.31; chr14:101964528-102050798 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Dync1h1 mouse models; 2 with human DYNC1H1 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 6 alleles in 8 genetic backgrounds
    7 phenotypes from multigenic genotypes
    38 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000018707 Ensembl Gene Model | MGI Sequence Detail 65494 C57BL/6J ±  kb
    transcript ENSMUST00000018851 Ensembl | MGI Sequence Detail 14342 Not Applicable  
    polypeptide ENSMUSP00000018851 Ensembl | MGI Sequence Detail 4644 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 432
      cDNA 429
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14670, MGD-MRK-24013, MGD-MRK-8874, MGI:1891075, MGI:2144918, MGI:2442954, MGI:98455
    References
    more
    • Summaries
      All 100
      Developmental Gene Expression 9
      Diseases 1
      Gene Ontology 12
      Phenotypes 38
    • Earliest
      J:130870 Duchen LW, A dominant hereditary sensory disorder in the mouse with deficiency of muscle spindles: the mutant Sprawling. J Physiol. 1974 Mar;237(2):10P-11P
    • Latest
      J:264493 Sabblah TT, et al., A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. Sci Rep. 2018 Jan 29;8(1):1739

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory