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Exon 5 was replaced with a neo cassette. This exon is critical to the catalytic domain of the protein product. The absence of the modified transcript was confirmed by northern blot analysis of extracts from the heart, liver, skeletal, and kidney tissue. (J:128989)
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
