Primary Identifier | MGI:5468686 | Allele Type | Transgenic |
Attribute String | Inserted expressed sequence | Gene | Tg(Ckm-Chrne*L269F)5Cgz |
Strain of Origin | FVB/NJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A 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. |