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A transgene was generated encoding an adult murine cholinergic receptor, nicotinic, delta polypeptide (Chrnd*S268F) under control of a murine creatine kinase, muscle (Ckm) promoter. A point mutation was introduced resulting in the deltaS268F mutation present in a patient with slow-channel congenital myasthenic syndrome (SCCMS). The 3' untranslated end of the deltaS268F cDNA was removed and replaced with the 3' UTR of the neomycin resistance gene (neo) and an intron from the SV40 small t intron. Line 1 was generated. (J:111294)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
