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Treatment with psoralen and UV light was used to generate a clone (LT13) homoplastic for mitochondria with a G-to-A mutation at position 13997 that results in the amino acid substitution of proline with leucine at position 25 (p.P25L). This mutation is equivalent to the human mutation g.14600G>A (p.P25L) associated with optic atrophy and Leigh syndrome. Rhodamine-6G treatment was used to deplete ES cells of endogenous mitochondria. (J:192260)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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References Literature
Title
PMID
Journal
Year
IF
