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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
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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)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory