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Allele : Poc1b<em1Xjzha> POC1 centriolar protein B; endonuclease-mediated mutation 1, XiaoJun Zha

Primary Identifier	MGI:7528727	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Poc1b
Strain of Origin	C57BL/6J	Is Recombinase	false
Is Wild Type	false

molecularNote

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.

mutations:
Intragenic deletion

synonyms:
poc1b<c.151delG>,
poc1b<c.151delG>

earliestPublication:
Hua J, et al. (2023) Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice. Hum Mol Genet 32(14):2307-2317

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

3 Publication categories

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