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Exon 27 was replaced with a modified exon 27 in which the four conserved TTAG base pairs were deleted (corresponding to the c.2708_2711delTTAG mutation described in patients with dominant optic atrophy) and a loxP-flanked neomycin cassette was inserted between exon 25 and 26. The neomycin cassette was removed via Cre-mediated recombination. This deletion results in a frame shift, leading to the loss of the last 58 amino acids of all isoforms. (J:237963)
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
