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Impdh1 Gene Detail
Summary
  • Symbol
    Impdh1
  • Name
    inosine 5'-phosphate dehydrogenase 1
  • Synonyms
    B930086D20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:96567
    NCBI Gene: 23917
  • Gene Overview
    MyGene.info: IMPDH1
Location & Maps
more
  • Sequence Map
    Chr6:29200434-29216364 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15931 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 12.36 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    IMPDH1, inosine monophosphate dehydrogenase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IMPDH1, inosine monophosphate dehydrogenase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608
  • Links
    NCBI Gene ID: 3614
    neXtProt AC: NX_P20839

  • Chr Location
    7q31.3-q32; chr7:128392277-128409987 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human IMPDH1 associations

Human Disease Mouse Models
       Leber Congenital Amaurosis 11; LCA11   OMIM: 613837
Retinitis Pigmentosa 10; RP10   OMIM: 180105
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    7 phenotypes from multigenic genotypes
    5 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.
Mic homozygous for disruptions of this gene display abnormalities in T cell proliferation but are otherwise phenotypically normal.
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 OTTMUSG00000033782 VEGA Gene Model | MGI Sequence Detail 15931 C57BL/6J ±  kb
transcript OTTMUST00000085113 VEGA | MGI Sequence Detail 2471 Not Applicable  
polypeptide OTTMUSP00000045944 VEGA | MGI Sequence Detail 538 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    51 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-11401, MGI:2444863
References
more
  • Summaries
    All 28
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 5
  • Earliest
    J:43126 Dayton JS, et al., Type I inosine monophosphate dehydrogenase: evidence for a single functional gene in mammalian species. Biochem Biophys Res Commun. 1993 Sep 15;195(2):897-901
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

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
09/13/2016
MGI 6.05
The Jackson Laboratory