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The human plakoglobin cDNA with a 2 bp deletion at nucleotides 2157 and 2158 is under the control of the cardiac-specific mouse alpha-myosin heavy chain promoter. This 2 bp deletion is seen in individuals with Naxos disease. Four lines were generated but only one founder line was propagated in which expression of the exogenous truncated protein is at roughly equivalent levels to expression of the wild-type endogenous mouse protein. (J:235770)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
