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Mad2l1 Gene Detail
Summary
  • Symbol
    Mad2l1
  • Name
    MAD2 mitotic arrest deficient-like 1
  • Synonyms
    MAD2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860374
    NCBI Gene: 56150
  • Alliance
  • Transcription Start Sites
    3 TSS
  • Candidate for QTL
    7 QTL
Location &
Maps
more
  • Sequence Map
    Chr6:66512205-66518091 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 6, 30.56 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    74 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1860374
protein coding gene Chr6:66512205-66524204 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030836
protein coding gene Chr6:66481863-66494653 (+)
A/J MGP_AJ_G0030803
protein coding gene Chr6:63609979-63623429 (+)
AKR/J MGP_AKRJ_G0030731
protein coding gene Chr6:65592026-65603849 (+)
BALB/cJ MGP_BALBcJ_G0030814
protein coding gene Chr6:63989218-64002099 (+)
C3H/HeJ MGP_C3HHeJ_G0030898
protein coding gene Chr6:118591572-118603555 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031272
protein coding gene Chr6:68066518-68079540 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028465
protein coding gene Chr6:60845328-60855279 (+)
CAST/EiJ MGP_CASTEiJ_G0029927
protein coding gene Chr6:65921612-65934322 (+)
CBA/J MGP_CBAJ_G0030501
protein coding gene Chr6:70884090-70902203 (+)
DBA/2J MGP_DBA2J_G0030653
protein coding gene Chr6:63279673-63291488 (+)
FVB/NJ MGP_FVBNJ_G0030606
protein coding gene Chr6:62790875-62802741 (+)
LP/J MGP_LPJ_G0030737
protein coding gene Chr6:66390268-66402095 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030641
protein coding gene Chr6:74573992-74585889 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031298
protein coding gene Chr6:65553897-65566116 (+)
PWK/PhJ MGP_PWKPhJ_G0029641
protein coding gene Chr6:62425751-62437960 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029469
protein coding gene Chr6:65078197-65083730 (+)
WSB/EiJ MGP_WSBEiJ_G0030008
protein coding gene Chr6:65858549-65870356 (+)



Homology
more
  • Human Ortholog
    MAD2L1, mitotic arrest deficient 2 like 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAD2L1, mitotic arrest deficient 2 like 1
  • Synonyms
    HSMAD2, MAD2
  • Links
    NCBI Gene ID: 4085
    neXtProt AC: NX_Q13257
    UniProt: Q13257

  • Chr Location
    4q27; chr4:120055623-120066858 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 2 alleles in 3 genetic backgrounds
    6 phenotypes from multigenic genotypes
    25 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 null embryos die at E6.5-7.5. At E5.5, embryonic cells assemble spindles and undergo mitosis but do not arrest in response to microtubule depolymerization. At E6.5, loss of a functional spindle assembly ckeckpoint results in widespread chromosome missegregation and apoptosis.
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
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56150 NCBI Gene Model | MGI Sequence Detail 5887 C57BL/6J ±  kb
    transcript NM_019499 RefSeq | MGI Sequence Detail 2088 ZRU/MplStud  
    polypeptide Q9Z1B5 UniProt | EBI | MGI Sequence Detail 205 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 82
      cDNA 80
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2144039
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 19
      Gene Ontology 19
      Phenotypes 25
    • Earliest
      J:62829 Dobles M, et al., Chromosome missegregation and apoptosis in mice lacking the mitotic checkpoint protein Mad2. Cell. 2000 Jun 9;101(6):635-45
    • Latest
      J:338976 Qiao JY, et al., Mad2 is dispensable for accurate chromosome segregation but becomes essential when oocytes are subjected to environmental stress. Development. 2023 Jul 15;150(14):dev201398

    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
    03/19/2024
    MGI 6.23
    The Jackson Laboratory