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Phenotypes Associated with This Genotype
Genotype
MGI:8158267
Allelic
Composition
Ccdc188em1Osb/Ccdc188em1Osb
Genetic
Background
involves: C57BL/6NJcl * DBA/2NJcl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccdc188em1Osb mutation (0 available); any Ccdc188 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• spermatids exhibit impaired head-to-neck anchoring
• while the sperm head-to-tail coupling apparatus assembles properly, it fails to attach to the nucleus during spermiogenesis, leading to sperm head and neck separation
• sperm flagellum lacks the midpiece
• almost all spermatozoa in the cauda epididymis lack a mitochondrial sheath
• 99.3%, 100%, and 100% of spermatozoa are acephalic in testis, caput epididymis, and cauda epididymis, respectively, indicating that separation of sperm head from the flagella occurs in the testis
• more sperm flagella than sperm heads are present in testes and epididymides and sperm heads are rarely found in the epididymis, implying that spermatid heads are removed by Sertoli cells and only sperm flagella transit into the epididymis
• spermatids undergo annulus migration normally, but step 16 spermatids exhibit an annulus with no principal piece, indicating that the flagella breaks between the midpiece and principal piece after mitochondrial assembly and only the principal piece gets released to the epididymis
• most spermatozoa show abnormalities in the head region
• most spermatozoa are acephalic
• however, a few sperm heads with normal morphology are seen but most of them do not have flagellum
• sperm heads are abnormally present within residual bodies in testes suggesting that the separated sperm heads are engulfed and absorbed by Sertoli cells
• acephalic spermatozoa show a reduction in motility
• even though copulatory plugs are seen, no pups are born indicating male infertility
• however, females are fertile

cellular
• spermatids exhibit impaired head-to-neck anchoring
• while the sperm head-to-tail coupling apparatus assembles properly, it fails to attach to the nucleus during spermiogenesis, leading to sperm head and neck separation
• sperm flagellum lacks the midpiece
• almost all spermatozoa in the cauda epididymis lack a mitochondrial sheath
• 99.3%, 100%, and 100% of spermatozoa are acephalic in testis, caput epididymis, and cauda epididymis, respectively, indicating that separation of sperm head from the flagella occurs in the testis
• more sperm flagella than sperm heads are present in testes and epididymides and sperm heads are rarely found in the epididymis, implying that spermatid heads are removed by Sertoli cells and only sperm flagella transit into the epididymis
• spermatids undergo annulus migration normally, but step 16 spermatids exhibit an annulus with no principal piece, indicating that the flagella breaks between the midpiece and principal piece after mitochondrial assembly and only the principal piece gets released to the epididymis
• most spermatozoa show abnormalities in the head region
• most spermatozoa are acephalic
• however, a few sperm heads with normal morphology are seen but most of them do not have flagellum
• sperm heads are abnormally present within residual bodies in testes suggesting that the separated sperm heads are engulfed and absorbed by Sertoli cells
• acephalic spermatozoa show a reduction in motility

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
male infertility due to acephalic spermatozoa DOID:0112311 J:361702


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory