Type |
Details |
Score |
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Doktor TK |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2. |
Volume: |
9 |
Issue: |
6 |
Pages: |
e98841 |
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•
•
•
•
•
|
Interaction Experiment |
Description: |
SMN1 functions as a novel inhibitor for TRAF6-mediated NF-B signaling. |
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•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; targeted mutation 3, Andrew Murphy |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready, Humanized sequence, No functional change |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/? Grm7/Grm7<+> |
Background: |
involves: 129P2/OlaHsd * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; targeted mutation 5, Andrew Murphy |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
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•
•
•
•
•
|
Allele |
Name: |
transgene insertion 2023, Arthur H M Burghes |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; targeted mutation 2, Andrew Murphy |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout, Reporter |
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•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; targeted mutation 1.1, Dawn S Chandler |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 5, Arthur H M Burghes |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 11, Arthur H M Burghes |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
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•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 10, Arthur H M Burghes |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/? |
Background: |
involves: 129P2/OlaHsd * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
DO Term |
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•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
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•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, transgenic, targeted mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Avila AM |
Year: |
2007 |
Journal: |
J Clin Invest |
Title: |
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. |
Volume: |
117 |
Issue: |
3 |
Pages: |
659-71 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/Tg(SMN1*A2G)2023Ahmb Grm7/? |
Background: |
involves: 129P2/OlaHsd * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/? Grm7/Grm7 |
Background: |
involves: 129P2/OlaHsd * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/? Tg(SMN2*A111G)591Ahmb/? |
Background: |
involves: 129P2/OlaHsd * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
238
![FASTA](model/images/fasta.gif) |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
207
![FASTA](model/images/fasta.gif) |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
147
![FASTA](model/images/fasta.gif) |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
186
![FASTA](model/images/fasta.gif) |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Carissimi C |
Year: |
2006 |
Journal: |
J Biol Chem |
Title: |
Gemin8 is required for the architecture and function of the survival motor neuron complex. |
Volume: |
281 |
Issue: |
48 |
Pages: |
37009-16 |
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•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
GEMIN8 proteins are found in the nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies themselves. They are also found in the cytoplasm []. The family is part of the SMN (survival motor neurone) complex that plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. GEMIN8 binds directly to SMN1 and mediates the interaction of the GEMIN6-GEMIN7 heterodimer []. |
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•
•
•
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•
|
Allele |
Name: |
SMG6 nonsense mediated mRNA decay factor; transgene insertion 1, Nick Parkinson |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
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•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant stock |
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•
•
•
•
•
|
Strain |
Attribute String: |
congenic, targeted mutation |
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•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, congenic |
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•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; targeted mutation 2, Christine DiDonato |
Allele Type: |
Targeted |
Attribute String: |
Hypomorph |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
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•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6NTac |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1*A2G)2023Ahmb/? Tg(SMN2*A111G)588Ahmb/? |
Background: |
involves: 129P2/OlaHsd * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 2, Arthur H M Burghes |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Kevin Talbot |
Allele Type: |
Transgenic |
Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, transgenic |
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•
•
•
•
•
|
Publication |
First Author: |
Parkinson N |
Year: |
2012 |
Journal: |
Personal Communication to K. Pickford at Harwell |
Title: |
Personal Communication: SMN E134K transgene |
|
|
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129 * C57BL/6 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smg6/Smg6<+> |
Background: |
involves: C57BL/6 * CBA * FVB/N |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smg6/Smg6 |
Background: |
involves: C57BL/6 * CBA * FVB/N |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 16, Christian L Lorson |
Allele Type: |
Transgenic |
Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
Allele |
Name: |
survival motor neuron 1; targeted mutation 4, Andrew Murphy |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, transgenic, mutant stock |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1<+> |
Background: |
involves: 129S6/SvEvTac * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
van den Berg L |
Year: |
2003 |
Journal: |
J Hered |
Title: |
Isolation and characterization of the canine serotonin receptor 1A gene (htr1A). |
Volume: |
94 |
Issue: |
1 |
Pages: |
49-56 |
|
•
•
•
•
•
|
Publication |
First Author: |
Woo CJ |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Gene activation of SMN by selective disruption of lncRNA-mediated recruitment of PRC2 for the treatment of spinal muscular atrophy. |
Volume: |
114 |
Issue: |
8 |
Pages: |
E1509-E1518 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
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•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, targeted mutation, mutant strain, congenic |
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•
•
•
•
•
|
Strain |
Attribute String: |
transgenic, targeted mutation, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, transgenic, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, targeted mutation, mutant strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, congenic, mutant strain |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
B6.129-Smn1/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
FVB.129(B6)-Smn1/J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1<+> |
Background: |
involves: 129S6/SvEvTac * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Grohmann K |
Year: |
2001 |
Journal: |
Nat Genet |
Title: |
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. |
Volume: |
29 |
Issue: |
1 |
Pages: |
75-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jodelka FM |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. |
Volume: |
19 |
Issue: |
24 |
Pages: |
4906-17 |
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•
•
•
•
•
|
Publication |
First Author: |
Hasegawa M |
Year: |
2016 |
Journal: |
Neurosci Res |
Title: |
Analysis of RNA metabolism in peripheral WBCs of TDP-43 KI mice identifies novel biomarkers of ALS. |
Volume: |
106 |
|
Pages: |
12-22 |
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•
•
•
•
|
Publication |
First Author: |
Kelter AR |
Year: |
2000 |
Journal: |
Genomics |
Title: |
The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1. |
Volume: |
70 |
Issue: |
3 |
Pages: |
315-26 |
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•
•
•
•
•
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Strain |
Attribute String: |
targeted mutation, transgenic, mutant stock |
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•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
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•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, transgenic, mutant strain, congenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, congenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, targeted mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6NTac |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 Tg(SMN1-SMN2*)16Cll/? Grm7/Grm7 |
Background: |
involves: 129P2/OlaHsd * C57BL/6 * FVB/N |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
DiDonato CJ |
Year: |
2001 |
Journal: |
Hum Mol Genet |
Title: |
Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing. |
Volume: |
10 |
Issue: |
23 |
Pages: |
2727-36 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
targeted mutation, transgenic, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Smn1/Smn1 |
Background: |
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Strain |
Attribute String: |
mutant stock, targeted mutation, transgenic |
|
•
•
•
•
•
|
Publication |
First Author: |
MouseBookTM |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from MouseBookTM, Medical Research Council Mammalian Genetics Unit, Harwell, UK. |
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•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from The Jackson Laboratory, Bar Harbor, ME |
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•
•
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•
|