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Tardbptm3.1Ckjs
Targeted Allele Detail
Nomenclature
Symbol: Tardbptm3.1Ckjs
Name: TAR DNA binding protein; targeted mutation 3.1, C K James Shen
MGI ID: MGI:6404633
Synonyms: TDP-43(N390D)
Gene: Tardbp  Location: Chr4:148612382-148627019 bp, - strand  Genetic Position: Chr4, 78.77 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:285792
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsThe nucleotide A at position 1168 was substituted for G resulting in a N to D change at amino acid 390 in exon 6. A loxp-flanked neomycin-resistant gene that was inserted in intron 4 was removed via cre-mediated recombination. The N390D mutation was identified in a sporadic amyloid lateral sclerosis-TDP patient from Quebec. (J:285792)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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
Carrying any Tardbp Mutation:  44 strains or lines available
References
Original:  J:285792 Huang SL, et al., A robust TDP-43 knock-in mouse model of ALS. Acta Neuropathol Commun. 2020 Jan 21;8(1):3
All:  1 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
02/23/2021
MGI 6.16
The Jackson Laboratory