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Grntm1.1Hiok
Targeted Allele Detail
Nomenclature
Symbol: Grntm1.1Hiok
Name: granulin; targeted mutation 1.1, Hitoshi Okazawa
MGI ID: MGI:6150889
Synonyms: R504X KI
Gene: Grn  Location: Chr11:102430322-102436809 bp, + strand  Genetic Position: Chr11, 66.29 cM
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 detailsA point mutation was introduced into BAC RP23-311P1 that results in the R504X mutation in the encoded protein. This point mutation corresponds to the human R493X mutation causally linked to PGRN-linked 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 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)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Grn Mutation:  31 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:  1 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
07/09/2019
MGI 6.14
The Jackson Laboratory