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Smn1
Gene Detail
 Symbol
Name
ID
Smn1
survival motor neuron 1
MGI:109257
Synonyms SMN
Feature Type protein coding gene
Genetic Map
Chromosome 13
52.99 cM, cytoband D1/D2.1
Detailed Genetic Map ± 1 cM


Mapping data(18)
Sequence Map
Chr13:100124852-100137690 bp, + strand
From VEGA annotation of GRCm38

  12839 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:292  Vertebrate Homology Class
2 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: survival motor neuron protein
Gene Tree: Smn1

Human
homologs
Human Homolog SMN1, survival of motor neuron 1, telomeric
NCBI Gene ID 6606
neXtProt AC  NX_Q16637
Human Synonyms  BCD541, GEMIN1, SMA, SMA@, SMA1, SMA2, SMA3, SMA4, SMN, SMNT, T-BCD541, TDRD16A
Human Chr (Location)  5q13.2; chr5:70924941-70953012 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human SMN1
Human Homolog SMN2, survival of motor neuron 2, centromeric
NCBI Gene ID 6607
neXtProt AC  NX_Q16637
Human Synonyms  BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
Human Chr (Location)  5q13.2; chr5:70049523-70077595 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SMN2
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(1) Targeted(15)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Smn1 (3)    Alleles Annotated to Human Diseases(8)   
Interactions
Smn1 interacts with 46 markers (Mir18b, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process axonogenesis, microtubule depolymerization, ...
Component Cajal body, cytoplasm, ...
Function fibroblast growth factor binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (15 records)
Data Summary: Results (149)    Tissues (47)    Images (16)
Theiler Stages: 2, 3, 4, 5, 10, 18, 20, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 21
Northern blot 28
Western blot 75
RT-PCR 25
cDNA source data(60)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(108) Genomic(34) cDNA(63) Primer pair(10) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000033496 (Evidence)
Ensembl Gene ModelENSMUSG00000021645 (Evidence)
Entrez Gene20595 (Evidence)
UniGene2025
DFCITC1577124, TC1729948, TC1741931
DoTSDT.110956482, DT.491258, DT.91397968, DT.94274008, DT.94274009, DT.97374518
NIA Mouse Gene IndexU015186
Consensus CDS ProjectCCDS26725.1
International Mouse Knockout Project StatusSmn1
Sequences
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 sequences
All sequences(79) RefSeq(6) UniProt(8)
Polymorphisms PCR(4) : SNPs within 2kb(85 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010304 Survival motor neuron
InterPro IPR002999 Tudor domain
Protein Ontology PR:000026269 survival motor neuron protein
References (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:210674 Bowerman M, et al., Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology. Hum Mol Genet. 2014 Jul 1;23(13):3432-44
All references(190)
Disease annotation references (16)
Other
accession IDs
MGD-MRK-38302, MGI:2145301

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
09/23/2014
MGI 5.19
The Jackson Laboratory