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The targeting vector is designed to insert an FRT-flanked neomycin (neo) resistance cassette downstream of exon 6 of the gene. A C to T transition was introduced in exon 6, corresponding to human amino acid 208, resulting in a nonsense mutation, R207X, commonly found in patients with late infantile Neuronal Ceroid Lipofuscinoses (NCL) or Batten disease. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:241344)
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
