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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
    219 from dbSNP Build 142
  • Strain Annotations
    19
  • 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 ENSMUSG00200009465
protein coding gene Chr6:63425140-63436969 (+)
A/J ENSMUSG00195039257
protein coding gene Chr6:63169615-63181443 (+)
AKR/J ENSMUSG00220042891
protein coding gene Chr6:62651411-62663243 (+)
BALB/cJ ENSMUSG00180035405
protein coding gene Chr6:63525516-63537347 (+)
C3H/HeJ ENSMUSG00175038054
protein coding gene Chr6:113913855-113925684 (-)
C57BL/6NJ ENSMUSG00215040902
protein coding gene Chr6:63498521-63510352 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028465
protein coding gene Chr6:60845328-60855279 (+)
CAST/EiJ ENSTCUG00005033049
protein coding gene Chr6:63789165-63800987 (+)
CBA/J ENSMUSG00210034034
protein coding gene Chr6:63315196-63327025 (+)
DBA/2J ENSMUSG00185038886
protein coding gene Chr6:63886264-63898093 (+)
FVB/NJ ENSMUSG00205031152
protein coding gene Chr6:63309411-63321240 (+)
JF1/MsJ ENSUMUG00000024706
protein coding gene Chr6:63225589-63237406 (+)
LP/J ENSMUSG00230023826
protein coding gene Chr6:65008828-65020657 (+)
NOD/ShiLtJ ENSMUSG00190028027
protein coding gene Chr6:63188389-63200218 (+)
NZO/HlLtJ ENSMUSG00225018417
protein coding gene Chr6:67002113-67013942 (+)
PWK/PhJ ENSLUMG00010020057
protein coding gene Chr6:62445784-62457637 (+)
SPRET/EiJ ENSMSPG00010023265
protein coding gene Chr6:64249591-64254939 (+)
WSB/EiJ ENSIUOG00005020725
protein coding gene Chr6:63959181-63971003 (+)



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
    UniProt: Q13257

  • Chr Location
    4q27; chr4:120055623-120067192 (-)  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
    27 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
membraneless 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
      Antibodies 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2144039
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 19
      Gene Ontology 21
      Phenotypes 27
    • Earliest
      J:53194 Jin DY, et al., Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5. Genomics. 1999 Feb 1;55(3):363-4
    • Latest
      J:360884 Park J, et al., MAD2-Dependent Insulin Receptor Endocytosis Regulates Metabolic Homeostasis. Diabetes. 2023 Dec 1;72(12):1781-1794

    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
    09/01/2026
    MGI 6.24
    The Jackson Laboratory