The mouse promoter drive neuronal expression of the HA-tagged human cDNA with a trinucleotide repeat that results in a 79 glutamine stretch. This amplification of the glutamine tract is associated with Spinocerebellar Ataxia 3 (SCA3) in humans. Two lines with more than five copies of the transgene were generated. The pound symbol (#) denotes when no line number is specified and/or lines are pooled. (J:138381)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
FVB/N
--
Insertion
--
1
--
3

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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