Using a recombineering approach, a c.1994T>G point mutation was engineered in exon 16 to change codon 665 from methionine to arginine (p.Met665Arg). The FRT site flanked neomycin resistance gene cassette that was inserted into intron 15, was removed through subsequent flp-mediated recombination. This mutation mimics the p.Met666Arg mutation found in human spinocerebellar ataxia 28 (SCA28) patients. (J:277510)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Single point
--
1
13
1

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

References Literature

Title
PMID
Journal
Year
IF
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