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 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; chr5:70220768-70248839 (+)  GRCh37.p10
Disease Associations		(3) 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; chr5:69345350-69373422 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SMN2

Alleles and phenotypes

All alleles(16) : Targeted(15) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	axonogenesis, microtubule depolymerization, ...
Component	Cajal body, cytoplasm, ...
Function	fibroblast growth factor binding, RNA binding

External Resources: FuncBase

Expression

Literature Summary: (15 records)
Data Summary: Results (156)    Tissues (48)    Images (16)
Theiler Stages: 2, 3, 4, 5, 10, 18, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	21
Northern blot	28
Western blot	75
RT-PCR	32

cDNA source data(62)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(110) Genomic(34) cDNA(65) Primer pair(10) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000033496 (Evidence)
Ensembl Gene Model	ENSMUSG00000021645 (Evidence)
Entrez Gene	20595 (Evidence)
UniGene	2025
DFCI	TC1577124, TC1729948, TC1741931
DoTS	DT.110956482, DT.491258, DT.91397968, DT.94274008, DT.94274009, DT.97374518
NIA Mouse Gene Index	U015186
Consensus CDS Project	CCDS26725.1
International Mouse Knockout Project Status	Smn1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033496	VEGA Gene Model | MGI Sequence Detail	12839	C57BL/6J
transcript	OTTMUST00000084239	VEGA | MGI Sequence Detail	1222	Not Applicable
polypeptide	OTTMUSP00000045374	VEGA | MGI Sequence Detail	288	Not Applicable

All sequences(77) RefSeq(4) UniProt(8)

Polymorphisms

PCR(4) : SNPs(76 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194656 Piccoli M, et al., Amniotic fluid stem cells restore the muscle cell niche in a HSA-Cre, Smn(F7/F7) mouse model. Stem Cells. 2012 Aug;30(8):1675-84
All references(169)

Other accession IDs

MGD-MRK-38302, MGI:2145301