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The targeting construct contains an FRT-flanked PGK-neo cassette upstream of exon 7 and a point mutation c.816C-T (p.R272C) mutation inserted into exon 7 by site-directed mutagenesis. Flp-mediated recombination removed the FRT-flanked neo cassette. The R272C mutation is assoicated with autosomal recessive spastic ataxia of Charlevoix-Saquenay (ARSACS). (J:273562)
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
