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Nucleotide subtitutions resulted in the amino acid substitution of lysine for glutamic acid at position 129 (E129K). A floxed neo cassette used for selection purposes was inserted downstream of the stop codon and removed by cre mediated recombination. This mutation replicated one found in almost all human SCO2-mutated patients. (J:155116)
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
