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Smn1 Gene Detail
Summary
  • Symbol
    Smn1
  • Name
    survival motor neuron 1
  • Synonyms
    SMN
  • Feature Type
    protein coding gene
  • IDs
    MGI:109257
    NCBI Gene: 20595
Location & Maps
more
  • Sequence Map
    Chr13:100124852-100137690 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12839 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMN1, survival of motor neuron 1, telomeric
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SMN1, survival of motor neuron 1, telomeric
    Orthology source: HomoloGene
  • Synonyms
    BCD541, GEMIN1, SMA, SMA@, SMA1, SMA2, SMA3, SMA4, SMN, SMNT, T-BCD541, TDRD16A
  • Links
    NCBI Gene ID: 6606
    neXtProt AC: NX_Q16637

  • Chr Location
    5q13.2; chr5:70924941-70953015 (+)  GRCh38.p2

  • Human Ortholog
    SMN2, survival of motor neuron 2, centromeric
    Orthology source: HomoloGene
  • Synonyms
    BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
  • Links
    NCBI Gene ID: 6607
    neXtProt AC: NX_Q16637

  • Chr Location
    5q13.2; chr5:70049523-70077595 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Smn1 mouse models; 4 with human SMN1,SMN2 associations

Human Disease Mouse Models
       Spinal Muscular Atrophy, Type I; SMA1   OMIM: 253300 View 17 models
Spinal Muscular Atrophy, Type III; SMA3   OMIM: 253400 View 2 models
       Spinal Muscular Atrophy, Type II; SMA2   OMIM: 253550 View 1 model
Spinal Muscular Atrophy, Type IV; SMA4   OMIM: 271150
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    17 with disease annotations
  • References
    41 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 12 alleles in 11 genetic backgrounds
    142 phenotypes from multigenic genotypes
    154 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    34
  • Gene trapped
    1
  • Targeted
    15
  • Transgenic
    18
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit cell loss and peri-implantation lethality. Muscle-specific KO mice show muscle necrosis leading to paralysis and death. Neuron-specific KO mice show muscle degeneration associated with loss of motor axons.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033496 VEGA Gene Model | MGI Sequence Detail 12839 C57BL/6J ±  kb
transcript OTTMUST00000084239 VEGA | MGI Sequence Detail 1222 Not Applicable  
polypeptide OTTMUSP00000045374 VEGA | MGI Sequence Detail 288 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    85 from dbSNP Build 142
  • PCR
Protein
Information
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Molecular
Reagents
less
  • All nucleic 110
    Genomic 34
    cDNA 64
    Primer pair 11
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-38302, MGI:2145301
References
more
  • Summaries
    All 211
    Developmental Gene Expression 16
    Diseases 41
    Gene Ontology 10
    Phenotypes 154
  • Earliest
    J:42981 Lefebvre S, et al., Identification and characterization of a spinal muscular atrophy-determining gene [see comments]. Cell. 1995 Jan 13;80(1):155-65
  • Latest
    J:229461 Feng Z, et al., Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset. Hum Mol Genet. 2016 Mar 1;25(5):964-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory