Ccdc181^em1Qsh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ccdc181^em1Qsh
• Name: coiled-coil domain containing 181; endonuclease-mediated mutation 1, Qinghua Shi
• MGI ID: MGI:7785523
• Gene: Ccdc181 Location: Chr1:164103154-164115416 bp, + strand Genetic Position: Chr1, 71.59 cM, cytoband H1
• Alliance: Ccdc181^em1Qsh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting generated a 7 bp deletion in exon 2 (c.264_270del) leading to premature termination of translation (p.Ile89Arg, fs*33). Western blot analysis confirmed the absence of full-length protein in the testes of homozygotes. (J:359010)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Ccdc181^em1Qsh/Ccdc181^em1Qsh	C57BL/6J-Ccdc181^em1Qsh

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms Sex:
cellular	√
abnormal sperm flagellum morphology	√
abnormal sperm axoneme morphology	√
absent sperm flagellum	√
coiled sperm flagellum	√
kinked sperm flagellum	√
short sperm flagellum	√
oligozoospermia	√
abnormal sperm head morphology	√
abnormal acroplaxome morphology	√
abnormal acrosome morphology	√
detached acrosome	√
elongated manchette	√
increased male germ cell apoptosis	√
asthenozoospermia	√
reproductive system	√
abnormal sperm flagellum morphology	√
abnormal sperm axoneme morphology	√
absent sperm flagellum	√
coiled sperm flagellum	√
kinked sperm flagellum	√
short sperm flagellum	√
oligozoospermia	√
abnormal sperm head morphology	√
abnormal acroplaxome morphology	√
abnormal acrosome morphology	√
detached acrosome	√
elongated manchette	√
increased male germ cell apoptosis	√
asthenozoospermia	√
male infertility	√

View phenotypes and curated references for all genotypes (concatenated display).

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 Ccdc181 Mutation: 19 strains or lines available

References

• Original: J:359010 Zhang XJ, et al., CCDC181 is required for sperm flagellum biogenesis and male fertility in mice. Zool Res. 2024 Sep 18;45(5):1061-1072
• All: 1 reference(s)