Primary Identifier | MGI:6150889 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Grn |
Transmission | Germline | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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 |