Log In|Sign Up
EN
The 240 kb human bacterial artificial chromosome (BAC) RP11-866L6, containing the entire 170 kb human Huntingtin (HTT) genomic locus and approximately 20 kb of 5' and 50 kb of 3' flanking sequences, was modified by replacing the human mutant mHTT exon 1 sequence (containing about 120 CAG repeats followed by one CAA, 8 CAGs and another CAA-CAG encoding a total of about 131 glutamine repeats). Founder line BAC-CAG contains 2 tandem copies of the transgene. mHTT repeat sizing and sequencing confirmed an uninterrupted CAG repeat size of about 120, with total polyQ repeat sequence of 131. (J:319519)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
