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Mdc1 Gene Detail
Summary
  • Symbol
    Mdc1
  • Name
    mediator of DNA damage checkpoint 1
  • Synonyms
    NFBD1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3525201
    NCBI Gene: 240087
  • Gene Overview
    MyGene.info: MDC1
Location & Maps
more
  • Sequence Map
    Chr17:35841515-35859670 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18156 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 18.70 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    MDC1, mediator of DNA damage checkpoint 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    MDC1, mediator of DNA damage checkpoint 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NFBD1
  • Links
    NCBI Gene ID: 9656
    neXtProt AC: NX_Q14676

  • Chr Location
    6p21.33; chr6:30699807-30717966 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    16 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
    39
  • Gene trapped
    35
  • Targeted
    3
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Mdc1
  • Incidental Mutations
Homozygous mutant mice are smaller and display increased susceptibility to ionizing radiation, male infertility, T and B cell abnormalities, and increased genomic instability.
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 OTTMUSG00000037407 VEGA Gene Model | MGI Sequence Detail 18156 C57BL/6J ±  kb
transcript OTTMUST00000096524 VEGA | MGI Sequence Detail 7335 Not Applicable  
polypeptide OTTMUSP00000053942 VEGA | MGI Sequence Detail 1708 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
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  • All nucleic 71
    cDNA 71

    Microarray probesets 2
Other
Accession IDs
less
MGI:3035026
References
more
  • Summaries
    All 46
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 16
  • Earliest
    J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
  • Latest
    J:225041 Hasegawa K, et al., SCML2 establishes the male germline epigenome through regulation of histone H2A ubiquitination. Dev Cell. 2015 Mar 9;32(5):574-88

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
11/22/2016
MGI 6.06
The Jackson Laboratory