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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
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:36152407-36170562 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 18.70 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3525201
protein coding gene Chr17:36152390-36170562 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023655
protein coding gene Chr17:36038459-36058752 (+)
A/J MGP_AJ_G0023610
protein coding gene Chr17:34921383-34939287 (+)
AKR/J MGP_AKRJ_G0023580
protein coding gene Chr17:35347293-35369027 (+)
BALB/cJ MGP_BALBcJ_G0023615
protein coding gene Chr17:35065723-35083630 (+)
C3H/HeJ MGP_C3HHeJ_G0023381
protein coding gene Chr17:35812681-35831666 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024057
protein coding gene Chr17:37507545-37527389 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021535
protein coding gene Chr17:32617348-32636274 (+)
CAST/EiJ MGP_CASTEiJ_G0022872
protein coding gene Chr17:35923557-35943268 (+)
CBA/J MGP_CBAJ_G0023359
protein coding gene Chr17:39090988-39111762 (+)
DBA/2J MGP_DBA2J_G0023483
protein coding gene Chr17:34227770-34245947 (+)
FVB/NJ MGP_FVBNJ_G0023454
protein coding gene Chr17:34024396-34042067 (+)
LP/J MGP_LPJ_G0023563
protein coding gene Chr17:36416689-36434349 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023475
protein coding gene Chr17:37858270-37878363 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024100
protein coding gene Chr17:35662308-35680827 (+)
PWK/PhJ MGP_PWKPhJ_G0022623
protein coding gene Chr17:33089453-33107929 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022442
protein coding gene Chr17:33714638-33732968 (+)
WSB/EiJ MGP_WSBEiJ_G0022938
protein coding gene Chr17:35811416-35830925 (+)



Homology
more
  • Human Ortholog
    MDC1, mediator of DNA damage checkpoint 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MDC1, mediator of DNA damage checkpoint 1
  • Synonyms
    NFBD1
  • Links
    NCBI Gene ID: 9656
    neXtProt AC: NX_Q14676
    UniProt: Q14676

  • Chr Location
    6p21.33; chr6:30699807-30717447 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    22 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 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
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000061607 Ensembl Gene Model | MGI Sequence Detail 18156 C57BL/6J ±  kb
    transcript ENSMUST00000082337 Ensembl | MGI Sequence Detail 7335 Not Applicable  
    polypeptide ENSMUSP00000080949 Ensembl | MGI Sequence Detail 1708 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 72
      cDNA 72

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3035026
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 4
      Gene Ontology 7
      Phenotypes 22
    • 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:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

    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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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory