Grn^tm1.1Hiok
Targeted Allele Detail

Summary

• Symbol: Grn^tm1.1Hiok
• Name: granulin; targeted mutation 1.1, Hitoshi Okazawa
• MGI ID: MGI:6150889
• Synonyms: PGRN-KI, PGRN-R504X-KI
• Gene: Grn Location: Chr11:102321333-102327635 bp, + strand Genetic Position: Chr11, 66.29 cM
• Alliance: Grn^tm1.1Hiok page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:259943
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A mutation was introduced into BAC RP23-311P1 that changes arginine codon 504 (AGG) to a stop codon (p.R504*). This mutation corresponds to the human p.R493* mutation causally linked to PGRN-linked frontotemporal lobar degeneration (FTLD). This BAC was used to create a targeting vector, and homologous recombination in ES cells and production of chimeric mice transmitted the mutation into the mouse germline. A loxP site flanked neomycin selection cassette was removed by Cre-mediated recombination in mice. Western blot analysis shows that level of full-length protein is reduced in the cerebral cortex (J:259943)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Grn Mutation: 48 strains or lines available

References

• Original: J:259943 Fujita K, et al., Targeting Tyro3 ameliorates a model of PGRN-mutant FTLD-TDP via tau-mediated synaptic pathology. Nat Commun. 2018 Jan 30;9(1):433
• All: 3 reference(s)