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| Nomenclature |
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Symbol:
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Chrnetm2Vwi
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Name:
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cholinergic receptor, nicotinic, epsilon polypeptide;
targeted mutation 2, Veit Witzemann
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MGI ID: |
MGI:5314798 |
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Synonyms: |
AChRepsilonL221F |
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Gene:
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Chrne
Location:
Chr11:70614883-70619216 bp, - strand
Genetic Position: Chr11,
43.14 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:182046
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Parent Cell Line:
| E14.1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Chrne Mutation:
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4 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
