Dzip1^em1Yxc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dzip1^em1Yxc
• Name: DAZ interacting protein 1; endonuclease-mediated mutation 1, Yunxia Cao
• MGI ID: MGI:7435644
• Gene: Dzip1 Location: Chr14:119112932-119162872 bp, - strand Genetic Position: Chr14, 62.56 cM, cytoband E4
• Alliance: Dzip1^em1Yxc page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting exon 2 generated a 31 bp deletion, c.102_132del, resulting in a frameshift mutation that is predicted to cause a premature translational termination (p.Ala35Serfs*13). Western blot analysis confirmed absence of protein in homozygous whole testis lysates. (J:333286)

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 Dzip1 Mutation: 38 strains or lines available

References

• Original: J:333286 Lv M, et al., Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF. J Med Genet. 2020 Jul;57(7):445-453
• All: 1 reference(s)