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F8 Gene Detail
Summary
  • Symbol
    F8
  • Name
    coagulation factor VIII
  • Synonyms
    Cf8, Cf-8, Factor VIII, FVIII
  • Feature Type
    protein coding gene
  • IDs
    MGI:88383
    NCBI Gene: 14069
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:74216321-74426221 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 38.17 cM, cytoband A7-B
  • Mapping Data
    28 experiments
Strain
Comparison
more
  • SNPs within 2kb
    243 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88383
 protein coding gene ChrX:74213950-74426342 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035856
 protein coding gene ChrX:71008678-71226880 (-)
A/J MGP_AJ_G0035843
 protein coding gene ChrX:71221329-71447063 (-)
AKR/J MGP_AKRJ_G0035764
 protein coding gene ChrX:73096616-73301509 (-)
BALB/cJ MGP_BALBcJ_G0035825
 protein coding gene ChrX:70234856-70439305 (-)
C3H/HeJ MGP_C3HHeJ_G0035535
 protein coding gene ChrX:71486713-71722500 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036355
 protein coding gene ChrX:73298529-73506009 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033194
 protein coding gene ChrX:70676443-70956944 (-)
CAST/EiJ MGP_CASTEiJ_G0034821
 protein coding gene ChrX:56845691-57055222 (-)
CBA/J MGP_CBAJ_G0035508
 protein coding gene ChrX:75257302-75469754 (-)
DBA/2J MGP_DBA2J_G0035666
 protein coding gene ChrX:70689960-70900771 (-)
FVB/NJ MGP_FVBNJ_G0035607
 protein coding gene ChrX:70006691-70225909 (-)
LP/J MGP_LPJ_G0035748
 protein coding gene ChrX:71817702-72026012 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035641
 protein coding gene ChrX:77862014-78085183 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036381
 protein coding gene ChrX:70875883-71094448 (-)
PWK/PhJ MGP_PWKPhJ_G0034518
 protein coding gene ChrX:54845570-55059844 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034354
 protein coding gene ChrX:57669358-57851403 (-)
WSB/EiJ MGP_WSBEiJ_G0034960
 protein coding gene ChrX:70101415-70299848 (-)



Homology
more
  • Human Ortholog
    F8, coagulation factor VIII
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    F8, coagulation factor VIII
  • Synonyms
    AHF, DXS1253E, F8B, F8C, FVIII, HEMA, THPH13
  • Links
    NCBI Gene ID: 2157
    neXtProt AC: NX_P00451
    UniProt: P00451

  • Chr Location
    Xq28; chrX:154835788-155026940 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with F8 mouse models; 1 with human F8 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 3 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    104 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.
Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    5
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
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
    778
  • Tissues
    63
  • cDNA Data
    15
  • Literature Summary
    9
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031196 Ensembl Gene Model | MGI Sequence Detail 209901 C57BL/6J ±  kb
transcript ENSMUST00000033539 Ensembl | MGI Sequence Detail 9784 Not Applicable  
polypeptide ENSMUSP00000033539 Ensembl | MGI Sequence Detail 2319 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    Genomic 1
    cDNA 20
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1949, MGD-MRK-1955
References
more
  • Summaries
    All 174
    Developmental Gene Expression 9
    Diseases 1
    Gene Ontology 5
    Phenotypes 104
  • Earliest
    J:9258 Amar LC, et al., Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse. Genomics. 1988 Apr;2(3):220-30
  • Latest
    J:340795 Batsuli G, et al., Factor VIII antibody immune complexes modulate the humoral response to factor VIII in an epitope-dependent manner. Front Immunol. 2023;14:1233356
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory