|  Help  |  About  |  Contact Us

Allele : Grn<tm1.1Hiok> granulin; targeted mutation 1.1, Hitoshi Okazawa

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
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • PGRN-KI,
  • PGRN-R504X-KI,
  • PGRN-KI,
  • PGRN-R504X-KI
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

6 Publication categories

Trail: Allele