Poc1b^em1Xjzha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Poc1b^em1Xjzha
• Name: POC1 centriolar protein B; endonuclease-mediated mutation 1, XiaoJun Zha
• MGI ID: MGI:7528727
• Synonyms: poc1b^c.151delG
• Gene: Poc1b Location: Chr10:98942918-99033936 bp, + strand Genetic Position: Chr10, 51.06 cM, cytoband C3
• Alliance: Poc1b^em1Xjzha page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 1 bp deletion, c.151delG, generating a frame-shift mutation. This is a frameshift variant found in two brothers diagnosed with both cone-rod dystrophy and oligoasthenoteratozoosperia. (J:340269)

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 Poc1b Mutation: 27 strains or lines available

References

• Original: J:340269 Hua J, et al., Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice. Hum Mol Genet. 2023 Jul 4;32(14):2307-2317
• All: 1 reference(s)