Tg(C9orf72_i3)112Lutzy
Transgene Detail

Summary

• 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

Transgene origin

• Strain of Origin: C57BL/6J

Transgene description

• 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)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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: 11 reference(s)