Pfn3^em2Hsc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pfn3^em2Hsc
• Name: profilin 3; endonuclease-mediated mutation 2, Hubert Schorle
• MGI ID: MGI:6384216
• Synonyms: Pfn3delta41
• Gene: Pfn3 Location: Chr13:55562501-55563045 bp, - strand Genetic Position: Chr13, 30.06 cM, cytoband B2
• Alliance: Pfn3^em2Hsc page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA)F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing was used to delete 41 bp causing a frameshift in the reading frame that leads to a premature stop codon after amino acid 13. qRT-PCR, Western blotting, and immunohistochemistry confirmed the deletion in the testes of homozygous mutant mice. (J:320651)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Pfn3 Mutation: 7 strains or lines available

References

• Original: J:320651 Umer N, et al., Loss of Profilin3 Impairs Spermiogenesis by Affecting Acrosome Biogenesis, Autophagy, Manchette Development and Mitochondrial Organization. Front Cell Dev Biol. 2021;9:749559
• All: 1 reference(s)