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An FRT-flanked neomycin resistance gene and a loxP site were introduced in intron 6 and a second loxP site was introduced in intron 5, located 200 bp 5 of exon 6. The neomycin cassette was removed via flp-mediated recombination. Cre-mediated recombination deleted exon 6. This results in an in-frame deletion of 41 amino acids that has been identified in a family with cardiomyopathy. Western blots of heart left ventricle extracts show lower levels of protein. (J:328713)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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
