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. (J:193524)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
FVB/NJ
--
Insertion
--
1
--
8

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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