About   Help   FAQ
Pfn1tm1Fgi
Targeted Allele Detail
Summary
Symbol: Pfn1tm1Fgi
Name: profilin 1; targeted mutation 1, Fernando Gianfrancesco
MGI ID: MGI:7482601
Synonyms: Pfn1c.318_321del
Gene: Pfn1  Location: Chr11:70542676-70545470 bp, - strand  Genetic Position: Chr11, 43.21 cM, cytoband A-D
Alliance: Pfn1tm1Fgi page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:335495
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Humanized sequence, Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsFour base pairs were deleted from the coding region in exon 2 (c.318_321delTGCC), creating an allele with a frameshift mutation and premature stop codon. A loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The mutation mimics a human mutation associated with OS/PDB (osteosarcoma/Paget's disease of bone). (J:335495)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
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 Pfn1 Mutation:  12 strains or lines available
References
Original:  J:335495 Scotto di Carlo F, et al., Profilin 1 deficiency drives mitotic defects and reduces genome stability. Commun Biol. 2023 Jan 4;6(1):9
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory