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Phenotypes Associated with This Genotype
Genotype
MGI:7616770
Allelic
Composition
Ccdc157em1Ymxi/Ccdc157em1Ymxi
Genetic
Background
C57BL/6-Ccdc157em1Ymxi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccdc157em1Ymxi mutation (0 available); any Ccdc157 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• decrease in sperm count in caudal epididymis
• 87.3% of sperm show malformed heads, with frequent sperm decapitation
• most sperm appear with non-sickle shaped heads
• however, no differences in the shape and length of sperm flagella and no ultrastructural abnormalities of axoneme, mitochondria, outer dense fibers, or fibrous sheath are seen
• Golgi apparatus is mis-localized in spermatids, being distributed throughout the cytoplasm and surround the nucleus in a ring instead of mainly accumulating at one side of the nucleus as in wild-type spermatids
• spermatids exhibit ambiguous marginal rings of the acroplaxome that are associated with the aberrant head structures
• spermatozoan acrosomes in the cauda epididymis exhibit various defective shapes, including deformation, mis-localization and fragmentation
• the existing small number of sperm in the epididymal duct show irregular shaped acrosome
• mature sperm show distorted or detached acrosomes, some with remaining cytoplasm/membranous organelle residue
• during acrosome biogenesis, the Cap phase appears normal, however at step 8, as spermatids begin to elongate in the acrosome phase, ambiguous marginal rings of the acroplaxome appear in the spermatids of testes, associated with the aberrant head structures which are presented by step 10
• in these spermatids, the nuclear envelope is detached from condensed chromatin and the head-tail coupling apparatus (HTCA) is separated from the nucleus
• a malformed groove belt region and deformed underlying nuclear lamina are seen
• the posterior edge of the acrosome is mispositioned, not being juxtaposed to the perinuclear rings of the manchette, while occurring as parallel with the perinuclear rings in wild-type mice
• seen in some mature sperm
• the existing small number of sperm in the epididymal duct show irregular shaped nuclei
• mature sperm show irregular nuclei
• frequent sperm decapitation is seen
• decrease in sperm motility in caudal epididymis
• weight of seminal vesicles is decreased, probably due to less sperm production
• even at stages VIII-IX of the seminiferous epithelial cycle, some of the spermatozoa remain attached to Sertoli cells, indicating that some spermatozoa undergo delayed spermiation
• weight of the epididymis is decreased, probably due to less sperm production
• however, testis, epididymis, and seminal vesicles appear normal and testes size and weight are normal
• males are sterile
• male mice fed Huangjiug Zanyu, a traditional Chinese medication, from 4 to 5 weeks of age until the time when the cohabited females first give birth, produce no offspring in either the control or drug group, even after 3 months of treatment

endocrine/exocrine glands
• weight of seminal vesicles is decreased, probably due to less sperm production

behavior/neurological
• females cohabiting with heterozygous males exhibit repeated offspring consumption and other aggressive parental behaviors, resulting in difficulties obtaining live litters

cellular
• decrease in sperm count in caudal epididymis
• 87.3% of sperm show malformed heads, with frequent sperm decapitation
• most sperm appear with non-sickle shaped heads
• however, no differences in the shape and length of sperm flagella and no ultrastructural abnormalities of axoneme, mitochondria, outer dense fibers, or fibrous sheath are seen
• Golgi apparatus is mis-localized in spermatids, being distributed throughout the cytoplasm and surround the nucleus in a ring instead of mainly accumulating at one side of the nucleus as in wild-type spermatids
• spermatids exhibit ambiguous marginal rings of the acroplaxome that are associated with the aberrant head structures
• spermatozoan acrosomes in the cauda epididymis exhibit various defective shapes, including deformation, mis-localization and fragmentation
• the existing small number of sperm in the epididymal duct show irregular shaped acrosome
• mature sperm show distorted or detached acrosomes, some with remaining cytoplasm/membranous organelle residue
• during acrosome biogenesis, the Cap phase appears normal, however at step 8, as spermatids begin to elongate in the acrosome phase, ambiguous marginal rings of the acroplaxome appear in the spermatids of testes, associated with the aberrant head structures which are presented by step 10
• in these spermatids, the nuclear envelope is detached from condensed chromatin and the head-tail coupling apparatus (HTCA) is separated from the nucleus
• a malformed groove belt region and deformed underlying nuclear lamina are seen
• the posterior edge of the acrosome is mispositioned, not being juxtaposed to the perinuclear rings of the manchette, while occurring as parallel with the perinuclear rings in wild-type mice
• seen in some mature sperm
• the existing small number of sperm in the epididymal duct show irregular shaped nuclei
• mature sperm show irregular nuclei
• frequent sperm decapitation is seen
• decrease in sperm motility in caudal epididymis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oligoasthenoteratozoospermia DOID:0070311 J:346468


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
06/12/2024
MGI 6.13
The Jackson Laboratory