Tg(C9orf72_i2)8Lutzy
Transgene Detail
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Symbol: |
Tg(C9orf72_i2)8Lutzy |
Name: |
transgene insertion 8, Cathy Lutz |
MGI ID: |
MGI:5618290 |
Transgene: |
Tg(C9orf72_i2)8Lutzy Location: unknown
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Alliance: |
Tg(C9orf72_i2)8Lutzy page
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(C9orf72_i2)8Lutzy expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
C9orf72 (203228) |
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BAC subclone contains a contraction to 15 GGGGCC repeats |
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Mutation details: The transgene 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. 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 contraction to 15 GGGGCC repeats was used.
(J:228731)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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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: |
2 reference(s) |
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