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

Symbol:	Tg(C9orf72_i3)112Lutzy
Name:	transgene insertion 112, Cathy Lutz
MGI ID:	MGI:5618284
Transgene:	Tg(C9orf72_i3)112Lutzy  Location: unknown
Alliance:	Tg(C9orf72_i3)112Lutzy page

Strain of Origin:

C57BL/6J

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Mutation details: The transgenic construct was designed using a bacterial artificial chromosome (BAC) clone derived from fibroblasts of a patient with amyotrophic lateral sclerosis (ALS), carrying the human chromosome 9 open reading frame 72 gene (C9orf72) with a hexanucleotide repeat expansion (GGGGCC) in the intron between the alternatively-spliced non-coding first exons 1a and 1b (variant 3). The BAC isolated a ~166 kbp sequence (~36 kbp human C9orf72 genomic sequence, with ~110 kbp upstream and ~20 kbp downstream sequences). Upon amplification of different BAC subclones in bacteria, the repeat expansion underwent contraction in some clones. A BAC subclone with a limited contraction to 100-1000 GGGGCC repeats was used. (J:228731)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available

Original:	J:228731 O'Rourke JG, et al., C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. Neuron. 2015 Dec 2;88(5):892-901
All:	3 reference(s)