Pfn1^tm1Fgi
Targeted Allele Detail

Summary

• Symbol: Pfn1^tm1Fgi
• Name: profilin 1; targeted mutation 1, Fernando Gianfrancesco
• MGI ID: MGI:7482601
• Synonyms: Pfn1^c.318_321del
• Gene: Pfn1 Location: Chr11:70542676-70545470 bp, - strand Genetic Position: Chr11, 43.21 cM, cytoband A-D
• Alliance: Pfn1^tm1Fgi 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 details: Four 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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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ht1	Pfn1^tm1Fgi/Pfn1^+	involves: 129P2/OlaHsd

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms
cellular	√
abnormal cell morphology	√
abnormal cell nucleus morphology	√
increased cell nucleus count	√
binucleate	√
abnormal mitotic cytokinesis	√

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)