Chrne^tm2Vwi
Targeted Allele Detail

Summary

• Symbol: Chrne^tm2Vwi
• Name: cholinergic receptor, nicotinic, epsilon polypeptide; targeted mutation 2, Veit Witzemann
• MGI ID: MGI:5314798
• Synonyms: AChR^epsilonL221F
• Gene: Chrne Location: Chr11:70505709-70510042 bp, - strand Genetic Position: Chr11, 43.14 cM
• Alliance: Chrne^tm2Vwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:182046
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A cDNA segment encoding an L221F substitution followed by a PGK-neomycin sequence was inserted. Transcriptional efficiency of the mutated allele was about 50% of the unaltered allele but end plate receptor density was unaffected. (J:182046)

Disease models

Find Mice (IMSR)

• 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
• Carrying any Chrne Mutation: 22 strains or lines available

References

• Original: J:182046 Chevessier F, et al., A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation. Neurobiol Dis. 2012 Mar;45(3):851-61
• All: 1 reference(s)