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Cfap43 Gene Detail
Summary
  • Symbol
    Cfap43
  • Name
    cilia and flagella associated protein 43
  • Synonyms
    4632415N18Rik, 4930428C11Rik, 4930463G05Rik, D19Ertd652e, Wdr96
  • Feature Type
    protein coding gene
  • IDs
    MGI:1289258
    NCBI Gene: 100048534
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr19:47737561-47919287 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      181727 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 40.41 cM, cytoband D2
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    CFAP43, cilia and flagella associated protein 43
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CFAP43, cilia and flagella associated protein 43
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bA373N18.2, C10orf79, SPGF19, WDR96
  • Links
    NCBI Gene ID: 80217
    neXtProt AC: NX_Q8NDM7
    UniProt: Q8NDM7

  • Chr Location
    10q25.1; chr10:104129888-104232363 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 36425
    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: CFAP43
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    2 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.
Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects.
Gene Ontology
(GO)
Classifications
less
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 OTTMUSG00000034162 VEGA Gene Model | MGI Sequence Detail 181727 C57BL/6J ±  kb
    transcript OTTMUST00000086578 VEGA | MGI Sequence Detail 5264 Not Applicable  
    polypeptide OTTMUSP00000046885 VEGA | MGI Sequence Detail 1682 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1335 from dbSNP Build 142
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 9
      Primer pair 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1918056, MGI:1918886, MGI:1922174, MGI:2147530
    References
    more
    • Summaries
      All 24
      Developmental Gene Expression 1
      Phenotypes 2
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:257803 Coutton C, et al., Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Commun. 2018 Feb 15;9(1):686

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/03/2018
    MGI 6.12
    The Jackson Laboratory