Apob MGI Mouse Gene Detail - MGI:88052 - apolipoprotein B

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Apob Gene Detail
Summary
  • Symbol
    Apob
  • Name
    apolipoprotein B
  • Synonyms
    apob-100, apob-48
  • Feature Type
    protein coding gene
  • IDs
    MGI:88052
    NCBI Gene: 238055
  • Alliance
  • Transcription Start Sites
    105 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:8027648-8066835 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 12, 3.53 cM
  • Mapping Data
    26 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1000 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88052
protein coding gene Chr12:8027629-8066839 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019581
protein coding gene Chr12:5002013-5042205 (+)
A/J MGP_AJ_G0019548
protein coding gene Chr12:4878622-4919190 (+)
AKR/J MGP_AKRJ_G0019518
protein coding gene Chr12:5186442-5228820 (+)
BALB/cJ MGP_BALBcJ_G0019523
protein coding gene Chr12:4947638-4989154 (+)
C3H/HeJ MGP_C3HHeJ_G0019329
protein coding gene Chr12:4970925-5011938 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019972
protein coding gene Chr12:5134054-5174467 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017597
protein coding gene Chr12:4684974-4723162 (+)
CAST/EiJ MGP_CASTEiJ_G0018884
protein coding gene Chr12:5020593-5061611 (+)
CBA/J MGP_CBAJ_G0019300
protein coding gene Chr12:5645224-5689572 (+)
DBA/2J MGP_DBA2J_G0019413
protein coding gene Chr12:4820514-4861116 (+)
FVB/NJ MGP_FVBNJ_G0019404
protein coding gene Chr12:4798175-4837141 (+)
LP/J MGP_LPJ_G0019484
protein coding gene Chr12:5050149-5089700 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019437
protein coding gene Chr12:5467405-5512091 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020011
protein coding gene Chr12:4953792-4995245 (+)
PWK/PhJ MGP_PWKPhJ_G0018650
protein coding gene Chr12:4875410-4957198 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018441
protein coding gene Chr12:4960096-5039203 (+)
WSB/EiJ MGP_WSBEiJ_G0018935
protein coding gene Chr12:4998071-5043620 (+)



Homology
more
  • Human Ortholog
    APOB, apolipoprotein B
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APOB, apolipoprotein B
  • Synonyms
    apoB-100, apoB-48, FCHL2, FLDB, LDLCQ4
  • Links
    NCBI Gene ID: 338
    UniProt: P04114

  • Chr Location
    2p24.1; chr2:21001429-21044073 (-) GRCh38
Human Diseases
more
  • Diseases
    1 with Apob mouse models; 13 with human APOB associations

Human Disease Mouse Models
IDs
familial hypobetalipoproteinemia 2
View 2 models
Mouse Models

Human Disease Modeled: familial hypobetalipoproteinemia 2

Allelic Composition Genetic Background Reference Phenotypes
Apobtm1Mae/Apobtm1Mae
involves: 129P2/OlaHsd * C57BL/6J J:36426 View
Apobtm1Mae/Apob+
 involves: 129P2/OlaHsd * C57BL/6J J:36426 J:113171 View
IDs
aortic valve stenosis

DOID:1712
DOID:12034
DOID:1711
ICD10CM:I06.0
ICD10CM:Q23.0
ICD9CM:395.0
ICD9CM:746.3
MESH:D001024
NCI:C50462
UMLS_CUI:C0003507
UMLS_CUI:C0152417
UMLS_CUI:C0155567
IDs
arteriosclerosis

DOID:2349
ICD10CM:I70
MESH:D001161
NCI:C34398
UMLS_CUI:C0003850
IDs
bile duct cancer

DOID:4606
DOID:10019
ICD10CM:C24.0
ICD9CM:156.1
MESH:D001650
NCI:C2898
NCI:C7483
UMLS_CUI:C0005396
UMLS_CUI:C0153453
IDs
coronary artery disease

DOID:3393
DOID:10506
DOID:3363
DOID:3394
DOID:9420
EFO:0001645
ICD10CM:I20-I25
ICD10CM:I25
ICD10CM:I25.10
ICD9CM:410-414.99
ICD9CM:414.0
ICD9CM:414.9
MESH:D003324
MESH:D003327
MESH:D017202
NCI:C35505
NCI:C50625
OMIM:300464
OMIM:607339
OMIM:608316
OMIM:608318
OMIM:608320
OMIM:610947
OMIM:611139
OMIM:612030
OMIM:614293
UMLS_CUI:C0010054
UMLS_CUI:C0010068
UMLS_CUI:C0151744
UMLS_CUI:C0264694
IDs
diabetic retinopathy

DOID:8947
ICD9CM:362.0
MESH:D003930
NCI:C34538
UMLS_CUI:C0011884
IDs
familial hypercholesterolemia

DOID:13810
ICD10CM:E78.01
MESH:D006938
NCI:C34704
OMIM:143890
ORDO:406
UMLS_CUI:C0020445
IDs
familial hyperlipidemia

DOID:1168
DOID:3147
ICD10CM:E78.5
MESH:D006949
MESH:D006951
NCI:C34707
NCI:C34709
UMLS_CUI:C0020473
UMLS_CUI:C0020476
IDs
familial hypobetalipoproteinemia 1
IDs
gallbladder cancer

DOID:3121
DOID:8090
DOID:8157
ICD10CM:C23
ICD9CM:156.0
MESH:D005706
NCI:C3048
NCI:C35676
NCI:C7481
UMLS_CUI:C0016978
UMLS_CUI:C0153452
UMLS_CUI:C0278806
IDs
hypobetalipoproteinemia

DOID:1390
MESH:D006995
UMLS_CUI:C0020597
IDs
ovarian cancer

DOID:2394
DOID:0060070
DOID:2144
DOID:9595
ICD10CM:C56
ICD9CM:183.0
MESH:D010051
NCI:C4984
NCI:C7431
OMIM:167000
OMIM:607893
ORDO:213500
ORDO:213517
UMLS_CUI:C0919267
UMLS_CUI:C1140680
UMLS_CUI:C1299247
IDs
sickle cell anemia

DOID:10923
DOID:12924
DOID:13024
ICD9CM_2006:282.63
ICD9CM:282.6
ICD9CM:282.60
ICD9CM:282.63
MESH:D000755
ORDO:232
UMLS_CUI:C0002895
IDs
type 2 diabetes mellitus
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 11 alleles in 8 genetic backgrounds
    40 phenotypes from multigenic genotypes
    3 images
    109 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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 mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.
Gene Ontology
(GO)
Classifications
less
  • 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
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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 ENSMUSG00000020609 Ensembl Gene Model | MGI Sequence Detail 39188 C57BL/6J ± kb
    transcript ENSMUST00000037811 Ensembl | MGI Sequence Detail 13934 Not Applicable
    polypeptide ENSMUSP00000036044 Ensembl | MGI Sequence Detail 4505 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 77
      Genomic 4
      cDNA 61
      Primer pair 10
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1370, MGI:2144785
    References
    more
    • Summaries
      All 246
      Developmental Gene Expression 27
      Diseases 4
      Gene Ontology 29
      Phenotypes 109
    • Earliest
      J:24996 Mahley RW, et al., Plasma lipoproteins: apolipoprotein structure and function. J Lipid Res. 1984 Dec 1;25(12):1277-94
    • Latest
      J:358511 Ravindran A, et al., Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis. Cardiovasc Res. 2024 Jul 2;120(8):869-882
    TSS for Apob:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr112607 Chr12:8027640-8027654 (+) -1 bp
    Tssr3777 Chr12:8027689-8027703 (+) 48 bp
    Tssr3778 Chr12:8027730-8027741 (+) 88 bp
    Tssr112608 Chr12:8027750-8027755 (+) 105 bp
    Tssr3779 Chr12:8027767-8027792 (+) 132 bp
    Tssr112609 Chr12:8030499-8030535 (+) 2,869 bp
    Tssr112610 Chr12:8030560-8030576 (+) 2,920 bp
    Tssr112611 Chr12:8030582-8030599 (+) 2,943 bp
    Tssr112612 Chr12:8033027-8033038 (+) 5,385 bp
    Tssr112613 Chr12:8033114-8033128 (+) 5,473 bp
    Tssr112614 Chr12:8033914-8033934 (+) 6,276 bp
    Tssr112615 Chr12:8035278-8035302 (+) 7,642 bp
    Tssr112616 Chr12:8035342-8035373 (+) 7,710 bp
    Tssr112617 Chr12:8037740-8037782 (+) 10,113 bp
    Tssr112618 Chr12:8037789-8037800 (+) 10,147 bp
    Tssr112619 Chr12:8038666-8038681 (+) 11,026 bp
    Tssr3780 Chr12:8038708-8038724 (+) 11,068 bp
    Tssr112620 Chr12:8038749-8038769 (+) 11,111 bp
    Tssr112621 Chr12:8042938-8042949 (+) 15,296 bp
    Tssr3781 Chr12:8045672-8045675 (+) 18,026 bp
    Tssr112622 Chr12:8046509-8046521 (+) 18,867 bp
    Tssr112623 Chr12:8048609-8048630 (+) 20,972 bp
    Tssr112624 Chr12:8051833-8051853 (+) 24,195 bp
    Tssr112625 Chr12:8053284-8053307 (+) 25,648 bp
    Tssr112626 Chr12:8054906-8054918 (+) 27,264 bp
    Tssr112627 Chr12:8054977-8054988 (+) 27,335 bp
    Tssr112628 Chr12:8056081-8056091 (+) 28,438 bp
    Tssr112629 Chr12:8056245-8056252 (+) 28,601 bp
    Tssr112630 Chr12:8056384-8056392 (+) 28,740 bp
    Tssr112631 Chr12:8056617-8056629 (+) 28,975 bp
    Tssr112632 Chr12:8056651-8056660 (+) 29,008 bp
    Tssr112633 Chr12:8056716-8056736 (+) 29,078 bp
    Tssr112634 Chr12:8056867-8056881 (+) 29,226 bp
    Tssr112635 Chr12:8056958-8056967 (+) 29,315 bp
    Tssr112636 Chr12:8057429-8057432 (+) 29,783 bp
    Tssr112637 Chr12:8057502-8057512 (+) 29,859 bp
    Tssr112638 Chr12:8057574-8057577 (+) 29,928 bp
    Tssr112639 Chr12:8057801-8057819 (+) 30,162 bp
    Tssr112640 Chr12:8057854-8057861 (+) 30,210 bp
    Tssr112641 Chr12:8057908-8057913 (+) 30,263 bp
    Tssr112642 Chr12:8057960-8057987 (+) 30,326 bp
    Tssr112643 Chr12:8058067-8058076 (+) 30,424 bp
    Tssr112644 Chr12:8058280-8058290 (+) 30,637 bp
    Tssr112645 Chr12:8058382-8058392 (+) 30,739 bp
    Tssr112646 Chr12:8058408-8058421 (+) 30,767 bp
    Tssr112647 Chr12:8058582-8058593 (+) 30,940 bp
    Tssr112648 Chr12:8058594-8058615 (+) 30,957 bp
    Tssr3782 Chr12:8058696-8058712 (+) 31,056 bp
    Tssr112649 Chr12:8059086-8059097 (+) 31,444 bp
    Tssr112650 Chr12:8059145-8059177 (+) 31,513 bp
    Tssr112651 Chr12:8059216-8059229 (+) 31,575 bp
    Tssr112652 Chr12:8059240-8059259 (+) 31,602 bp
    Tssr112653 Chr12:8059267-8059278 (+) 31,625 bp
    Tssr112654 Chr12:8059283-8059292 (+) 31,640 bp
    Tssr112655 Chr12:8059301-8059315 (+) 31,660 bp
    Tssr112656 Chr12:8059323-8059335 (+) 31,681 bp
    Tssr112657 Chr12:8059338-8059349 (+) 31,696 bp
    Tssr112658 Chr12:8059371-8059382 (+) 31,729 bp
    Tssr112659 Chr12:8059424-8059461 (+) 31,795 bp
    Tssr112660 Chr12:8059576-8059585 (+) 31,933 bp
    Tssr112661 Chr12:8059807-8059820 (+) 32,166 bp
    Tssr112662 Chr12:8060051-8060061 (+) 32,408 bp
    Tssr112663 Chr12:8060286-8060302 (+) 32,646 bp
    Tssr112664 Chr12:8060311-8060326 (+) 32,671 bp
    Tssr112665 Chr12:8060476-8060481 (+) 32,831 bp
    Tssr112666 Chr12:8060485-8060501 (+) 32,845 bp
    Tssr112667 Chr12:8060532-8060550 (+) 32,893 bp
    Tssr112668 Chr12:8060670-8060686 (+) 33,030 bp
    Tssr112669 Chr12:8060755-8060773 (+) 33,116 bp
    Tssr112670 Chr12:8060808-8060829 (+) 33,171 bp
    Tssr112671 Chr12:8060923-8060932 (+) 33,280 bp
    Tssr112672 Chr12:8061502-8061514 (+) 33,860 bp
    Tssr112673 Chr12:8061545-8061582 (+) 33,916 bp
    Tssr112674 Chr12:8061646-8061657 (+) 34,004 bp
    Tssr112675 Chr12:8061673-8061689 (+) 34,033 bp
    Tssr112676 Chr12:8061776-8061785 (+) 34,133 bp
    Tssr112677 Chr12:8061926-8061937 (+) 34,284 bp
    Tssr112678 Chr12:8062050-8062059 (+) 34,407 bp
    Tssr112679 Chr12:8062075-8062085 (+) 34,432 bp
    Tssr112680 Chr12:8062094-8062101 (+) 34,450 bp
    Tssr112681 Chr12:8062141-8062151 (+) 34,498 bp
    Tssr112682 Chr12:8062154-8062166 (+) 34,512 bp
    Tssr112683 Chr12:8062191-8062200 (+) 34,548 bp
    Tssr112684 Chr12:8062235-8062244 (+) 34,592 bp
    Tssr112685 Chr12:8062283-8062307 (+) 34,647 bp
    Tssr112686 Chr12:8062331-8062338 (+) 34,687 bp
    Tssr112687 Chr12:8062411-8062419 (+) 34,767 bp
    Tssr112688 Chr12:8062512-8062522 (+) 34,869 bp
    Tssr112689 Chr12:8062554-8062562 (+) 34,910 bp
    Tssr112690 Chr12:8062579-8062588 (+) 34,936 bp
    Tssr112691 Chr12:8062630-8062644 (+) 34,989 bp
    Tssr112692 Chr12:8062666-8062677 (+) 35,024 bp
    Tssr112693 Chr12:8062685-8062696 (+) 35,043 bp
    Tssr112694 Chr12:8062823-8062832 (+) 35,180 bp
    Tssr112695 Chr12:8063042-8063049 (+) 35,398 bp
    Tssr112696 Chr12:8065037-8065050 (+) 37,396 bp
    Tssr112697 Chr12:8065320-8065334 (+) 37,679 bp
    Tssr112698 Chr12:8065367-8065386 (+) 37,729 bp
    Tssr112699 Chr12:8065468-8065496 (+) 37,834 bp
    Tssr112700 Chr12:8065500-8065513 (+) 37,859 bp
    Tssr3783 Chr12:8065647-8065656 (+) 38,004 bp
    Tssr112701 Chr12:8065691-8065703 (+) 38,049 bp
    Tssr112702 Chr12:8065814-8065826 (+) 38,172 bp
    Tssr112703 Chr12:8065955-8065970 (+) 38,315 bp
    Tssr112704 Chr12:8066805-8066811 (+) 39,160 bp
    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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    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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