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The transgenic construct consists of a ~156 kbp human bacterial artificial chromosome (BAC) CH523-111K12 containing the human C9ALS patient-derived C9orf72 gene encoding a truncated short C9ORF72 isoform (222 aa; exons 1-5 with TAA site and polyA signal) with ~450 hexanucleotide repeat expansions (GGGGCC) in intron 1a. The BAC has ~140 kbp of transcriptionally-upstream (telomeric) flanking sequences that contain no other confirmed genes (May 2016). Founder line 10 or C9<450B> was identified with ~450 repeats and 3 to 4-fold greater expression of C9orf72 RNA compared to endogenous mouse C9orf72 RNA. (J:232242)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
