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Grntm2.1Far
Targeted Allele Detail
Nomenclature
Symbol: Grntm2.1Far
Name: granulin; targeted mutation 2.1, Bob Farese
MGI ID: MGI:5811645
Synonyms: GrnR493X
Gene: Grn  Location: Chr11:102430322-102436809 bp, + strand  Genetic Position: Chr11, 66.29 cM
Microgliosis, thalamic neuronal TDP-43+ cytoplasmic inclusions, reduced synaptic density, lipofuscinosis, and skin lesions due to excessive grooming in Grntm2.1Far/Grntm2.1Far mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:101977
Parent Cell Line:  RF8 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe targeting construct is designed to insert a loxP- and an FRT-flanked neomycin (neo) resistance cassette downstream of coding region of the gene. Additionally, a nonsense mutation, R504X, is introduced in to exon 11. The mutation is analogous to the human mutation, R493X, and is commonly associated with frontotemporal dementia (FTD). Flp-mediated recombination removed the FRT-flanked neo cassette. (J:101977)
Generation of the Grntm2.1Far allele
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: 2 anatomical structures
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
Carrying any Grn Mutation:  31 strains or lines available
References
Original:  J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017;
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
08/06/2019
MGI 6.14
The Jackson Laboratory