The 240 kb human bacterial artificial chromosome (BAC RP11-866L6), containing the entire 170 kb human Huntingtin genomic locus and approximately 20 kbp of 5' and 50 kbp of 3' flanking sequences and modified to replace the human HTT exon 1 with a loxP-flanked human mutant HTT exon 1 sequence containing 97 mixed CAA-CAG repeats encoding a continuous polyglutamine stretch was further modified to delete the first 17-amino-acid domain (N17; residues 2-16). This modified BAC containing both the 97Q repeats and the deleted N17 domain was microinjected into FVB/NJ fertilized eggs. Three founders were established; N, L, and A. Line A is the very low expressing line. (J:219890)

Basic Information

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

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PMID
Journal
Year
IF
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