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Jag1 Gene Detail
Summary
  • Symbol
    Jag1
  • Name
    jagged 1
  • Synonyms
    ABE2, Gsfabe2, Headturner, Htu, Ozz, Serrate-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1095416
    NCBI Gene: 16449
  • Gene Overview
    MyGene.info: JAG1
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:137081451-137116520 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 67.73 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    274 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1095416
protein coding gene Chr2:137081451-137116644 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026562
protein coding gene Chr2:140870666-140905837 (-)
A/J MGP_AJ_G0026526
protein coding gene Chr2:135159558-135195393 (-)
AKR/J MGP_AKRJ_G0026500
protein coding gene Chr2:139041183-139078392 (-)
BALB/cJ MGP_BALBcJ_G0026538
protein coding gene Chr2:135545994-135581397 (-)
C3H/HeJ MGP_C3HHeJ_G0026281
protein coding gene Chr2:139494600-139531210 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026983
protein coding gene Chr2:145099632-145140130 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024360
protein coding gene Chr2:129688357-129723164 (-)
CAST/EiJ MGP_CASTEiJ_G0025742
protein coding gene Chr2:139872938-139908983 (-)
CBA/J MGP_CBAJ_G0026261
protein coding gene Chr2:150503142-150543589 (-)
DBA/2J MGP_DBA2J_G0026395
protein coding gene Chr2:134530686-134566614 (-)
FVB/NJ MGP_FVBNJ_G0026359
protein coding gene Chr2:133113837-133149295 (-)
LP/J MGP_LPJ_G0026499
protein coding gene Chr2:141035005-141071471 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026379
protein coding gene Chr2:154322570-154360417 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027038
protein coding gene Chr2:139048249-139083203 (-)
PWK/PhJ MGP_PWKPhJ_G0025478
protein coding gene Chr2:134151216-134186717 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025280
protein coding gene Chr2:138147079-138185263 (-)
WSB/EiJ MGP_WSBEiJ_G0025816
protein coding gene Chr2:139964167-140001176 (-)



Homology
more
  • Human Ortholog
    JAG1, jagged 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    JAG1, jagged 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AGS, AGS1, AHD, AWS, CD339, DCHE, HJ1, JAGL1
  • Links
    NCBI Gene ID: 182
    neXtProt AC: NX_P78504
    UniProt: P78504

  • Chr Location
    20p12.2; chr20:10637684-10674046 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 180
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: JAG1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Jag1 mouse models; 2 with human JAG1 associations

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    121 phenotypes from 12 alleles in 21 genetic backgrounds
    43 phenotypes from multigenic genotypes
    3 images
    118 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye. Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16449 NCBI Gene Model | MGI Sequence Detail 35070 C57BL/6J ±  kb
    transcript NM_013822 RefSeq | MGI Sequence Detail 5493 C57BL/6  
    polypeptide Q9QXX0 UniProt | EBI | MGI Sequence Detail 1218 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 91
      Genomic 1
      cDNA 63
      Primer pair 13
      Other 14

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1891333, MGI:2664252, MGI:3530800
    References
    more
    • Summaries
      All 497
      Developmental Gene Expression 343
      Diseases 8
      Gene Ontology 29
      Phenotypes 118
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:266356 Marable SS, et al., Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome. JCI Insight. 2018 Jul 25;3(14)

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory