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EN
Exon 2 was replaced with a modified exon 2 in which nucleotide substitutions (AGA to GAC at codon 34 and AAA to ATA at codon 39) result in the amino acid substitutions of aspartic acid for arginine at position 34 (R34D) and isoleucine for lysine at position 39 (K39I) within the mitochondrial targeting domain. A floxed neo cassette inserted upstream of the modified exon was removed by cre mediated recombination. The product is predicted to undergo ER-specific targeting. (J:163973)
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
