Pmfbp1^em1Wli
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pmfbp1^em1Wli
• Name: polyamine modulated factor 1 binding protein 1; endonuclease-mediated mutation 1, Wei Li
• MGI ID: MGI:6259647
• Synonyms: Pmfbp1^em1Liwe
• Gene: Pmfbp1 Location: Chr8:110220659-110269272 bp, + strand Genetic Position: Chr8, 57.05 cM
• Alliance: Pmfbp1^em1Wli page

Mutation origin

• Strain of Origin: (C57BL/6J x DBA/2J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination created a 28,712 bp deletion including all of exons 3 - 10. Immunoblot analysis confirmed the absence of protein expression in testes from homozygous mice. (J:266460)

Disease models

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 Pmfbp1 Mutation: 55 strains or lines available

References

• Original: J:266460 Zhu F, et al., Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):188-199
• All: 2 reference(s)