Tg(Ckm-Chrnd*S268F)1Cgz
Transgene Detail
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Symbol: |
Tg(Ckm-Chrnd*S268F)1Cgz |
Name: |
transgene insertion 1, Christopher Gomez |
MGI ID: |
MGI:5468688 |
Synonyms: |
deltaS268F |
Transgene: |
Tg(Ckm-Chrnd*S268F)1Cgz Location: unknown
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Alliance: |
Tg(Ckm-Chrnd*S268F)1Cgz page
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Transgene Type: |
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Transgenic (Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(Ckm-Chrnd*S268F)1Cgz expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Note |
mouse |
Chrnd (MGI:87893) |
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Mutation details: A transgene was generated encoding an adult murine cholinergic receptor, nicotinic, delta polypeptide (Chrnd*S268F) under control of a murine creatine kinase, muscle (Ckm) promoter. A point mutation was introduced resulting in the deltaS268F mutation present in a patient with slow-channel congenital myasthenic syndrome (SCCMS). The 3' untranslated end of the deltaS268F cDNA was removed and replaced with the 3' UTR of the neomycin resistance gene (neo) and an intron from the SV40 small t intron. Line 1 was generated.
(J:111294)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 1 strain available
Cell Lines: 0 lines available
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Original: |
J:111294 Vohra BP, et al., Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model. Neurobiol Dis. 2006 Aug;23(2):462-70 |
All: |
3 reference(s) |
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