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Mfsd8 Gene Detail
Summary
  • Symbol
    Mfsd8
  • Name
    major facilitator superfamily domain containing 8
  • Synonyms
    2810423E13Rik, Cln7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919425
    NCBI Gene: 72175
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:40772538-40801321 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 19.55 cM, cytoband C
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    119 from dbSNP Build 142
  • Strain Annotations
    14
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919425
 protein coding gene Chr3:40772500-40801322 (-)
129S1/SvImJ no annotation
A/J MGP_AJ_G0027141
 protein coding gene Chr3:37837801-37918637 (-)
AKR/J MGP_AKRJ_G0027110
 protein coding gene Chr3:38554597-38613034 (-)
BALB/cJ MGP_BALBcJ_G0027153
 protein coding gene Chr3:37590223-37663574 (-)
C3H/HeJ MGP_C3HHeJ_G0026896
 protein coding gene Chr3:38641949-38688459 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027599
 protein coding gene Chr3:40374202-40441052 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024960
 protein coding gene Chr3:35405635-35440253 (-)
CAST/EiJ no annotation
CBA/J MGP_CBAJ_G0026873
 protein coding gene Chr3:41543270-41587174 (-)
DBA/2J MGP_DBA2J_G0027007
 protein coding gene Chr3:37296537-37331537 (-)
FVB/NJ MGP_FVBNJ_G0026975
 protein coding gene Chr3:36699221-36769920 (-)
LP/J MGP_LPJ_G0027119
 protein coding gene Chr3:39524958-39609016 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026994
 protein coding gene Chr3:44014519-44047915 (-)
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0026082
 protein coding gene Chr3:36953749-37007408 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025894
 protein coding gene Chr3:37795670-37903428 (-)
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    MFSD8, major facilitator superfamily domain containing 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MFSD8, major facilitator superfamily domain containing 8
  • Synonyms
    CCMD, CLN7
  • Links
    NCBI Gene ID: 256471
    neXtProt AC: NX_Q8NHS3
    UniProt: Q8NHS3

  • Chr Location
    4q28.2; chr4:127917732-127966034 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mfsd8 mouse models; 1 with human MFSD8 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    23 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 null allele exhibit accumulation of autofluorescent material in the brain and peripheral tissues, retinal photoreceptor degeneration, presence of dense lamellar bodies in neurons, and a late-onset reactive gliosis and subtle astrogliosis in the brain.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    11
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
    752
  • Tissues
    33
  • cDNA Data
    38
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025759 Ensembl Gene Model | MGI Sequence Detail 28784 C57BL/6J ±  kb
    transcript ENSMUST00000026859 Ensembl | MGI Sequence Detail 3151 Not Applicable  
    polypeptide ENSMUSP00000026859 Ensembl | MGI Sequence Detail 519 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 38

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139801, MGI:3035426
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 11
      Phenotypes 23
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:327469 Chen X, et al., AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease. J Clin Invest. 2022 Mar 1;132(5):e146286
    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