Tg(SOD1*H46R)70Shsa
Transgene Detail
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| Symbol: |
Tg(SOD1*H46R)70Shsa |
| Name: |
transgene insertion 70, Shoichi Sasaki |
| MGI ID: |
MGI:6304340 |
| Synonyms: |
H46R-70 |
| Transgene: |
Tg(SOD1*H46R)70Shsa Location: unknown
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| Alliance: |
Tg(SOD1*H46R)70Shsa page
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| Transgene Type: |
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Transgenic (Dominant negative, Humanized sequence, Inserted expressed sequence) |
| Mutation: |
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Insertion
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Tg(SOD1*H46R)70Shsa expresses
1 gene
Transgene expresses:
| Organism |
Expressed Gene |
Homolog in Mouse |
Note |
| human |
SOD1 (6647) |
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Mutated human gene |
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Mutation details: The full human gene was isolated from PAC dJ100A14 and mutaginized (A>G) to introduce a p.H46R (substitution of histidine 46 with arginine) mutation in the encoded peptide. The transgene construct was micro-injected into (C57BL/6 x DBA/2)F1 embryos. The mutation represents a novel mutation found in some human familial amyotrophic lateral sclerosis (FALS) patients. Mouse line 70 expressed the human protein at 20-fold the level of the endogenous protein. The activity level of the mutated human protein was 20% of control level.
(J:274745)
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Original: |
J:274745 Sasaki S, et al., Motor neuron disease in transgenic mice with an H46R mutant SOD1 gene. J Neuropathol Exp Neurol. 2007 Jun;66(6):517-24 |
| All: |
5 reference(s) |
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Analysis Tools
