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Transgene Detail
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  
Strain of Origin:  FVB/NJ
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
Tg(Ckm-Chrnd*S268F)1Cgz expresses 1 gene
Mutation detailsA 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
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.16
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