Pithd1^em1Osb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pithd1^em1Osb
• Name: PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1; endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
• MGI ID: MGI:6416148
• Synonyms: PITHD1^delta, PITHD1^em1, Pithd1^em1Ohi
• Gene: Pithd1 Location: Chr4:135702913-135714555 bp, - strand Genetic Position: Chr4, 68.34 cM
• Alliance: Pithd1^em1Osb page

Mutation origin

• Strain of Origin: B6D2F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination created a deletion spanning from the middle of exon 1 to near the end of exon 3. Quantitative RT-PCR and immunoblot analysis confirmed the absence of expression of wild-type RNA and protein in testes from homozygous mice. (J:285040)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Pithd1 Mutation: 15 strains or lines available

References

• Original: J:285040 Kondo H, et al., PITHD1 is a proteasome-interacting protein essential for male fertilization. J Biol Chem. 2020 Feb 7;295(6):1658-1672
• All: 1 reference(s)