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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:100261360-100274198 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 52.99 cM, cytoband D1/D2.1
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    85 from dbSNP Build 142
  • Strain Annotations
    17
  • PCR
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109257
 protein coding gene Chr13:100259713-100274206 (+)
129S1/SvImJ no annotation
A/J MGP_AJ_G0020835
 protein coding gene Chr13:98020646-98041535 (+)
AKR/J MGP_AKRJ_G0020809
 protein coding gene Chr13:101023584-101036426 (+)
BALB/cJ MGP_BALBcJ_G0020833
 protein coding gene Chr13:98741708-98758113 (+)
C3H/HeJ MGP_C3HHeJ_G0020624
 protein coding gene Chr13:100744921-100759005 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021267
 protein coding gene Chr13:104982961-104997399 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018836
 protein coding gene Chr13:93743015-93755794 (+)
CAST/EiJ MGP_CASTEiJ_G0020142
 protein coding gene Chr13:100188891-100200422 (+)
CBA/J MGP_CBAJ_G0020584
 protein coding gene Chr13:109160019-109172844 (+)
DBA/2J MGP_DBA2J_G0020709
 protein coding gene Chr13:97791437-97804275 (+)
FVB/NJ MGP_FVBNJ_G0020690
 protein coding gene Chr13:96536927-96551868 (+)
LP/J MGP_LPJ_G0020784
 protein coding gene Chr13:102034555-102051903 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020718
 protein coding gene Chr13:109402184-109415442 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021308
 protein coding gene Chr13:100475832-100496818 (+)
PWK/PhJ MGP_PWKPhJ_G0019895
 protein coding gene Chr13:96622951-96634645 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019718
 protein coding gene Chr13:96767114-96779657 (+)
WSB/EiJ MGP_WSBEiJ_G0020200
 protein coding gene Chr13:100910104-100922941 (+)



Homology
more
  • Human Ortholog
    SMN1, survival of motor neuron 1, telomeric
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMN1, survival of motor neuron 1, telomeric
  • Synonyms
    BCD541, GEMIN1, SMA, SMA@, SMA1, SMA2, SMA3, SMA4, SMN, SMNT, T-BCD541, TDRD16A
  • Links
    NCBI Gene ID: 6606
    neXtProt AC: NX_Q16637
    UniProt: Q16637

  • Chr Location
    5q13.2
  • Human Ortholog
    SMN2, survival of motor neuron 2, centromeric
  • Synonyms
    BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
  • Links
    NCBI Gene ID: 6607
    neXtProt AC: NX_Q16637
    UniProt: Q16637

  • Chr Location
    5q13.2
Human Diseases
more
  • Diseases
    2 with Smn1 mouse models; 5 with human SMN1,SMN2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 17 models
      
IDs
IDs
 View 1 model
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    17 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    46 phenotypes from 11 alleles in 11 genetic backgrounds
    143 phenotypes from multigenic genotypes
    379 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.
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
less
  • All GO Annotations
    48
  • GO References
    14
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

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
    982
  • Tissues
    96
  • cDNA Data
    61
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021645 Ensembl Gene Model | MGI Sequence Detail 12839 C57BL/6J ±  kb
    transcript ENSMUST00000022147 Ensembl | MGI Sequence Detail 1222 Not Applicable  
    polypeptide ENSMUSP00000022147 Ensembl | MGI Sequence Detail 288 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 110
      Genomic 34
      cDNA 64
      Primer pair 11
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38302, MGI:2145301
    References
    more
    • Summaries
      All 468
      Developmental Gene Expression 21
      Diseases 17
      Gene Ontology 14
      Phenotypes 379
    • Earliest
      J:42981 Lefebvre S, et al., Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65
    • Latest
      J:355191 Roos A, et al., Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy. Acta Neuropathol. 2024 Mar 12;147(1):53
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory