Pmfbp1^em#Jfw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pmfbp1^em#Jfw
• Name: polyamine modulated factor 1 binding protein 1; endonuclease-mediated mutation, Jian-Feng Wu
• MGI ID: MGI:6681928
• Gene: Pmfbp1 Location: Chr8:110220659-110269272 bp, + strand Genetic Position: Chr8, 57.05 cM
• Alliance: Pmfbp1^em#Jfw page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to introduce deletions in exon 3. Mouse lines with a 23 bp, a 19 bp deletion, a 2 bp deletion, a 226 bp deletion (209 bp in exon), a 26 bp deletion, a 91 bp deletion, and a 12 bp deletion were used and experimental data from these lines was pooled. The pound symbol (#) is used because the lines are pooled. (J:303070)

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:303070 Sha YW, et al., Biallelic mutations in PMFBP1 cause acephalic spermatozoa. Clin Genet. 2019 Feb;95(2):277-286
• All: 1 reference(s)