This allele carries 18 CAG repeat units, with 20 glutamines, in the first exon of the endogenous gene and a floxed neo cassette in the promoter. This allele models the number of CAG repeats found in the human Htt and was found to be a hypomorphic allele, expressing reduced levels of the mutant protein. (J:72915)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
4
5

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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