Pfn1tm1Fgi
Targeted Allele Detail
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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
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Alliance: |
Pfn1tm1Fgi page
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Germline Transmission: |
Earliest citation of germline transmission:
J:335495
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Parent Cell Line: |
E14TG2a (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Humanized sequence, Null/knockout) |
Mutation: |
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Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Pfn1 Mutation: |
12 strains or lines available
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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) |
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