C3 MGI Mouse Gene Detail - MGI:88227 - complement component 3

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C3 Gene Detail
Summary
  • Symbol
    C3
  • Name
    complement component 3
  • Synonyms
    acylation stimulating protein, complement factor 3, Plp
  • Feature Type
    protein coding gene
  • IDs
    MGI:88227
    NCBI Gene: 12266
  • Alliance
  • Transcription Start Sites
    55 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:57510970-57535136 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 29.72 cM, cytoband E1-E3
  • Mapping Data
    41 experiments
Strain
Comparison
more
  • SNPs within 2kb
    687 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88227
protein coding gene Chr17:57510967-57535136 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023959
protein coding gene Chr17:58971369-59001221 (-)
A/J MGP_AJ_G0023917
protein coding gene Chr17:57335091-57359217 (-)
AKR/J MGP_AKRJ_G0023886
protein coding gene Chr17:58062465-58086584 (-)
BALB/cJ MGP_BALBcJ_G0023918
protein coding gene Chr17:57172948-57197061 (-)
C3H/HeJ MGP_C3HHeJ_G0023682
protein coding gene Chr17:58779408-58803383 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024364
protein coding gene Chr17:61267678-61293597 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021810
protein coding gene Chr17:53802779-53828080 (-)
CAST/EiJ MGP_CASTEiJ_G0023164
protein coding gene Chr17:59088416-59114439 (-)
CBA/J MGP_CBAJ_G0023658
protein coding gene Chr17:63662063-63689043 (-)
DBA/2J MGP_DBA2J_G0023786
protein coding gene Chr17:56025716-56050095 (-)
FVB/NJ MGP_FVBNJ_G0023752
protein coding gene Chr17:55604214-55628264 (-)
LP/J MGP_LPJ_G0023868
protein coding gene Chr17:59655620-59680444 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023780
protein coding gene Chr17:63092197-63116217 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024408
protein coding gene Chr17:58423657-58448824 (-)
PWK/PhJ MGP_PWKPhJ_G0022910
protein coding gene Chr17:55396411-55420853 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022721
protein coding gene Chr17:55197617-55224500 (-)
WSB/EiJ MGP_WSBEiJ_G0023230
protein coding gene Chr17:59059143-59083996 (-)



Homology
more
  • Human Ortholog
    C3, complement C3
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C3, complement C3
  • Synonyms
    AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
  • Links
    NCBI Gene ID: 718
    UniProt: P01024

  • Chr Location
    19p13.3; chr19:6677704-6730562 (-) GRCh38
  • MGI Vertebrate Homology
    C3 stringent orthology
    1 human;1 mouse;1 rat;5 zebrafish
  • HCOP
    vertebrate homology predictions: C3
  • Gene Tree
    C3
Human Diseases
more
  • Diseases
    2 with C3 mouse models; 13 with human C3 associations

Human Disease Mouse Models
IDs
complement component 3 deficiency
View 3 models
Mouse Models

Human Disease Modeled: complement component 3 deficiency

Allelic Composition Genetic Background Reference Phenotypes
C3tm1Pkna/C3tm1Pkna
involves: 129P2/OlaHsd * C57BL/6 J:45857 View
C3tm1Hrc/C3tm1Hrc
either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129X1/SvJ * C57BL/6) J:56193 View
C3tm1Crr/C3tm1Crr
involves: 129S4/SvJae * C57BL/6 J:30152 View
IDs
membranoproliferative glomerulonephritis
View 1 model
Mouse Models

Human Disease Modeled: membranoproliferative glomerulonephritis

Allelic Composition Genetic Background Reference Phenotypes
C3tm2(C3)Lgmo/C3tm2(C3)Lgmo
involves: 129 * C57BL/6 J:369997 View
IDs
age related macular degeneration 7
IDs
age related macular degeneration 9
IDs
Alzheimer's disease

DOID:10652
ICD10CM:G30
ICD9CM:331.0
KEGG:05010
MESH:D000544
NCI:C2866
UMLS_CUI:C0002395
IDs
asthma

DOID:2841
DOID:12703
DOID:13829
DOID:13830
DOID:2840
DOID:5783
ICD10CM:J45
ICD9CM:493
ICD9CM:493.9
KEGG:05310
MESH:D001249
NCI:C28397
OMIM:600807
UMLS_CUI:C0004096
IDs
atypical hemolytic-uremic syndrome
IDs
COVID-19

DOID:0080600
ICD10CM:U07.1
MESH:D000086382
NCI:C171133
UMLS_CUI:C5203670
IDs
Kuhnt-Junius degeneration

DOID:10873
ICD10CM:H35.32
ICD9CM_2006:362.52
ICD9CM:362.52
UMLS_CUI:C0271084
IDs
macular degeneration
IDs
paroxysmal nocturnal hemoglobinuria

DOID:0060284
ICD10CM:D59.5
ICD10CM:D59.6
MESH:D006457
NCI:C61233
OMIM:300818
OMIM:615399
ORDO:447
UMLS_CUI:C0019050
UMLS_CUI:C0024790
UMLS_CUI:C0086774
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
silicosis

DOID:10325
DOID:14007
ICD10CM:J62.8
ICD9CM:502
MESH:D012829
NCI:C3369
UMLS_CUI:C0037116
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    118 phenotypes from 4 alleles in 11 genetic backgrounds
    41 phenotypes from multigenic genotypes
    3 images
    496 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 mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.
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 ENSMUSG00000024164 Ensembl Gene Model | MGI Sequence Detail 24167 C57BL/6J ± kb
    transcript ENSMUST00000024988 Ensembl | MGI Sequence Detail 5136 Not Applicable
    polypeptide ENSMUSP00000024988 Ensembl | MGI Sequence Detail 1663 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000004900 complement C3
    • PDB
    • InterPro Domains
      IPR001599 Alpha-2-macroglobulin
      IPR011625 Alpha-2-macroglobulin, bait region domain
      IPR050473 Alpha-2-macroglobulin/Complement system
      IPR019742 Alpha-2-macroglobulin, conserved site
      IPR011626 Alpha-macroglobulin-like, TED domain
      IPR047565 Alpha-macroglobulin-like, thiol-ester bond-forming region
      IPR009048 Alpha-macroglobulin, receptor-binding
      IPR036595 Alpha-macroglobulin, receptor-binding domain superfamily
      IPR018081 Anaphylatoxin, complement system
      IPR001840 Anaphylatoxin, complement system domain
      IPR000020 Anaphylatoxin/fibulin
      IPR041425 Complement C3/4/5, macroglobulin domain MG1
      IPR035815 Complement C3-like, NTR domain
      IPR049466 Complement component 3, CUB domain, first segment
      IPR048848 Complement component 3, CUB domain, second segment
      IPR013783 Immunoglobulin-like fold
      IPR002890 Macroglobulin domain
      IPR041555 Macroglobulin domain MG3
      IPR040839 Macroglobulin domain MG4
      IPR001134 Netrin domain
      IPR018933 Netrin module, non-TIMP type
      IPR008930 Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
      IPR008993 Tissue inhibitor of metalloproteinases-like, OB-fold
    • GlyGen
      P01027 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 434
      Genomic 1
      cDNA 424
      Primer pair 4
      Other 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1700, MGI:2146809
    References
    more
    • Summaries
      All 671
      Developmental Gene Expression 24
      Diseases 4
      Gene Ontology 26
      Phenotypes 496
    • Earliest
      J:5960 Da Silva FP, et al., Murine complement component 3: genetic variation and linkage to H-2. Proc Natl Acad Sci U S A. 1978 Feb;75(2):963-5
    • Latest
      J:370951 Newman AG, et al., Glial reactivity and cognitive decline follow chronic heterochromatin loss in neurons. Nat Commun. 2025 Aug 8;16(1):7325
    TSS for C3:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr148967 Chr17:57535084-57535101 (-) 43 bp
    Tssr148966 Chr17:57533813-57533853 (-) 1,303 bp
    Tssr148965 Chr17:57533796-57533812 (-) 1,332 bp
    Tssr148964 Chr17:57533285-57533298 (-) 1,844 bp
    Tssr148963 Chr17:57533252-57533263 (-) 1,878 bp
    Tssr148962 Chr17:57533200-57533225 (-) 1,923 bp
    Tssr148961 Chr17:57533054-57533076 (-) 2,071 bp
    Tssr148960 Chr17:57533017-57533034 (-) 2,110 bp
    Tssr148959 Chr17:57532263-57532321 (-) 2,844 bp
    Tssr148958 Chr17:57532103-57532115 (-) 3,027 bp
    Tssr148957 Chr17:57531880-57531952 (-) 3,220 bp
    Tssr148956 Chr17:57531352-57531366 (-) 3,777 bp
    Tssr148955 Chr17:57531319-57531333 (-) 3,810 bp
    Tssr148954 Chr17:57531172-57531188 (-) 3,956 bp
    Tssr148953 Chr17:57531121-57531163 (-) 3,994 bp
    Tssr148952 Chr17:57530937-57530982 (-) 4,176 bp
    Tssr148951 Chr17:57530896-57530922 (-) 4,227 bp
    Tssr148950 Chr17:57530855-57530893 (-) 4,262 bp
    Tssr148949 Chr17:57530290-57530339 (-) 4,821 bp
    Tssr148948 Chr17:57530235-57530283 (-) 4,877 bp
    Tssr148947 Chr17:57530183-57530199 (-) 4,945 bp
    Tssr148946 Chr17:57529944-57529949 (-) 5,189 bp
    Tssr148945 Chr17:57529919-57529937 (-) 5,208 bp
    Tssr148944 Chr17:57529891-57529900 (-) 5,240 bp
    Tssr148943 Chr17:57529871-57529886 (-) 5,257 bp
    Tssr148942 Chr17:57529831-57529846 (-) 5,297 bp
    Tssr148941 Chr17:57529330-57529346 (-) 5,798 bp
    Tssr148940 Chr17:57529250-57529273 (-) 5,874 bp
    Tssr148939 Chr17:57528915-57528929 (-) 6,214 bp
    Tssr148938 Chr17:57528352-57528400 (-) 6,760 bp
    Tssr148937 Chr17:57528081-57528094 (-) 7,048 bp
    Tssr148936 Chr17:57528058-57528073 (-) 7,070 bp
    Tssr148935 Chr17:57528041-57528052 (-) 7,089 bp
    Tssr148934 Chr17:57527180-57527196 (-) 7,948 bp
    Tssr148927 Chr17:57524147-57524170 (-) 10,977 bp
    Tssr148926 Chr17:57522878-57522896 (-) 12,249 bp
    Tssr148925 Chr17:57522147-57522178 (-) 12,973 bp
    Tssr148924 Chr17:57521840-57521850 (-) 13,291 bp
    Tssr148923 Chr17:57521785-57521830 (-) 13,328 bp
    Tssr148922 Chr17:57520816-57520843 (-) 14,306 bp
    Tssr148921 Chr17:57519716-57519735 (-) 15,410 bp
    Tssr148920 Chr17:57519669-57519691 (-) 15,456 bp
    Tssr148919 Chr17:57518712-57518725 (-) 16,417 bp
    Tssr148918 Chr17:57518667-57518703 (-) 16,451 bp
    Tssr148917 Chr17:57518637-57518656 (-) 16,489 bp
    Tssr148916 Chr17:57517276-57517299 (-) 17,848 bp
    Tssr148915 Chr17:57517218-57517253 (-) 17,900 bp
    Tssr148914 Chr17:57517191-57517197 (-) 17,942 bp
    Tssr148913 Chr17:57516615-57516653 (-) 18,502 bp
    Tssr148912 Chr17:57516434-57516503 (-) 18,667 bp
    Tssr148911 Chr17:57514567-57514616 (-) 20,544 bp
    Tssr148910 Chr17:57514438-57514446 (-) 20,694 bp
    Tssr148909 Chr17:57514363-57514374 (-) 20,767 bp
    Tssr148908 Chr17:57513228-57513241 (-) 21,901 bp
    Tssr148907 Chr17:57512529-57512535 (-) 22,604 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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    Funding Information
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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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