Grn^tm2.1Far
Targeted Allele Detail

Summary

• Symbol: Grn^tm2.1Far
• Name: granulin; targeted mutation 2.1, Bob Farese
• MGI ID: MGI:5811645
• Synonyms: Grn^R493X
• Gene: Grn Location: Chr11:102321333-102327635 bp, + strand Genetic Position: Chr11, 66.29 cM
• Alliance: Grn^tm2.1Far page

Microgliosis, thalamic neuronal TDP-43+ cytoplasmic inclusions, reduced synaptic density, lipofuscinosis, and skin lesions due to excessive grooming in Grn^tm2.1Far/Grn^tm2.1Far 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 details: The 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 Grn^tm2.1Far allele

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 44 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 7 reference(s)