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Tg(C9orf72*)450BLagi
Transgene Detail
Nomenclature
Symbol: Tg(C9orf72*)450BLagi
Name: transgene insertion 450B, Clotilde Lagier-Tourenne
MGI ID: MGI:5776473
Synonyms: C9450B
Transgene: Tg(C9orf72*)450BLagi  Location: unknown  
Transgene
origin
Strain of Origin:  C57BL/6 x C3H
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(C9orf72*)450BLagi expresses 1 gene
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
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
Notes
Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: (FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1)
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory