Summary | Transgene origin | Transgene description | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Tg(C9orf72*)450BLagi
Name:	transgene insertion 450B, Clotilde Lagier-Tourenne
MGI ID:	MGI:5776473
Synonyms:	C9450B
Transgene:	Tg(C9orf72*)450BLagi  Location: unknown
Alliance:	Tg(C9orf72*)450BLagi page

Strain of Origin:

C57BL/6 x C3H

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Tg(C9orf72*)450BLagi expresses 1 gene Transgene expresses: Organism Expressed Gene Homolog in Mouse Note human C9orf72 (203228) C9orf72  (MGI:1920455) encodes a truncated isoform - exons 1-5 with TAA site and polyA signal   Mutation details: 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)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available

Original:	J:232242 Jiang J, et al., Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron. 2016 May 4;90(3):535-50
All:	2 reference(s)