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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
Location & Maps
more
  • Sequence Map
    Chr12:110601452-110666945 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      65494 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 60.70 cM
  • Mapping Data
    8 experiments
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

  • Chr Location
    14q32.31; chr14:101964528-102050798 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human DYNC1H1 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Axonal, Type 2o; CMT2O   OMIM: 614228
Mental Retardation, Autosomal Dominant 13; MRD13   OMIM: 614563
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant; SMALED1   OMIM: 158600
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 4 alleles in 6 genetic backgrounds
    8 phenotypes from multigenic genotypes
    37 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.
  • All Mutations and Alleles
    17
  • Chemically induced (ENU)
    2
  • Gene trapped
    11
  • Radiation induced
    1
  • Targeted
    2
  • Transgenic
    1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036080 VEGA Gene Model | MGI Sequence Detail 65494 C57BL/6J ±  kb
transcript OTTMUST00000092697 VEGA | MGI Sequence Detail 14342 Not Applicable  
polypeptide OTTMUSP00000051295 VEGA | MGI Sequence Detail 4644 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    612 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 431
    cDNA 428
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-14670, MGD-MRK-24013, MGD-MRK-8874, MGI:1891075, MGI:2144918, MGI:2442954, MGI:98455
References
more
  • Summaries
    All 89
    Developmental Gene Expression 9
    Gene Ontology 8
    Phenotypes 37
  • Earliest
    J:13459 Erway L, ub is allele of th. Mouse News Lett. 1967;36:29
  • Latest
    J:222854 Laguna A, et al., Dopaminergic control of autophagic-lysosomal function implicates Lmx1b in Parkinson's disease. Nat Neurosci. 2015 Jun;18(6):826-35

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory