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A gap-repair insertion was used to duplicate exons 3 and 4. Analysis of the mutant cDNA showed a duplication of exons 3 and 4 as well as the excision of the neomycin selection gene and the plasmid sequence. Northern blot analysis demonstrated normal expression levels of mutant transcript. No protein was detected by immunoblots in isolates from liver mitochondria of homozygous mutant animals. (J:51660)
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
