Tg(C9orf72_i3)101Lutzy
Transgene Detail
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Symbol: |
Tg(C9orf72_i3)101Lutzy |
Name: |
transgene insertion 101, Cathy Lutz |
MGI ID: |
MGI:7564002 |
Transgene: |
Tg(C9orf72_i3)101Lutzy Location: unknown Genetic Position: ChrUN, Syntenic
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Alliance: |
Tg(C9orf72_i3)101Lutzy 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_i3)101Lutzy expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
C9orf72 (203228) |
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contraction limited to 100-750 GGGGCC repeats |
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Mutation details: The transgenic construct contains 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. Sequence isolated from the BAC included 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. This BAC subclone is limited to a contraction of 100-750 GGGGCC repeats. At least 3 copies of the transgene integrated in tandem (segregating together); each copy harboring 780, 530 and 170 GGGGCC repeats, as determined by southern blot.
(J:101977)
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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:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017; |
All: |
1 reference(s) |
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