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Tg(Ckm-Chrne*L269F)5Cgz
Transgene Detail
Summary
Symbol: Tg(Ckm-Chrne*L269F)5Cgz
Name: transgene insertion 5, Christopher Gomez
MGI ID: MGI:5468686
Synonyms: epsilonL269F
Transgene: Tg(Ckm-Chrne*L269F)5Cgz  Location: unknown  
Alliance: Tg(Ckm-Chrne*L269F)5Cgz page
Transgene
origin
Strain of Origin:  FVB/NJ
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Ckm-Chrne*L269F)5Cgz expresses 1 gene
 
Mutation detailsA transgene was generated encoding the murine mutant cholinergic receptor, nicotinic, epsilon polypeptide (Chrne*L269F) under control of a murine creatine kinase, muscle (Ckm) promoter. A point mutation was introduced resulting in the epsilonL269F mutation as present in the affected members of two families with the slow-channel congenital myasthenic syndrome (SCCMS). The 3' untranslated end of the epsilonL269F cDNA was removed and replaced with the 3' UTR pf the neomycin resistance gene (neo) and an intron from the SV40 small t intron. Line 5 was generated. (J:193524)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
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
References
Original:  J:193524 Gomez CM, et al., Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction. J Neurosci. 1997 Jun 1;17(11):4170-9
All:  8 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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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory