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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ccdc183em1Osb
endonuclease-mediated mutation 1, Research Institute for Microbial Diseases, Osaka University
MGI:7621683
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ccdc183em1Osb/Ccdc183em1Osb involves: C57BL/6 * DBA MGI:7628211


Genotype
MGI:7628211
hm1
Allelic
Composition
Ccdc183em1Osb/Ccdc183em1Osb
Genetic
Background
involves: C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccdc183em1Osb mutation (2 available); any Ccdc183 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• adult male mice have fewer spermatozoa; normal spermatozoa are difficult to observe in the cauda epididymis
• proportion of cauda epididymal spermatozoa with normal morphology is dramatically reduced
• sperm tails are hardly found in testicular sections of adult males at all stages examined
• most spermatid flagella are located around round spermatids and only a few are found in the lumen of seminiferous tubules
• cauda epididymal spermatozoa show absence of outer dense fiber structures in the principal piece
• outer dense fibers structures are abnormal in step 8 spermatids; outer dense fibers are not properly localized around the axoneme in step 16 spermatids
• most ODF2 is ectopically localized in step 10 spermatids; however, some ODF2 localizes normally
• step 16 spermatids show collapsed axoneme structures and disintegrated microtubules during spermiogenesis
• cauda epididymal spermatozoa lack normal axonemes; fragmented microtubules attached to outer dense fibers are observed
• however, the 9 + 2 arrangement of microtubule doublets appears normal in step 6 spermatids
• mitochondrial sheaths without normal axoneme structure are observed in step 16 spermatids
• nearly all principal pieces of cauda epididymal spermatozoa do not have fibrous sheath and outer dense fibers, although a faint axoneme is observed
• expression signals of the fibrous sheath-associated proteins AKAP3 and AKAP4 are dramatically reduced
• in elongated spermatids, AKAP3 is abnormally detected as dots without filament-like signals, suggesting impaired elongation of the fibrous sheath
• AKAP3 is scattered in the cytoplasm rather than found on the inner side of the fibrous sheath surface as in control spermatids
• cauda epididymal spermatozoa show absence of a fibrous sheath in the principal piece
• a fibrous sheath surrounding axonemal microtubules and outer dense fibers is rarely observed; however, these structures are not compartmentalized by a flagellar membrane
• elongating spermatids exhibit abnormal head shapes due to abnormal sculpting by the manchette
• step 12 spermatids exhibit abnormalities in manchette morphology and localization
• however, manchette microtubule structures appear normal
• progressive sperm rate is dramatically reduced
• CASA revealed that spermatozoa are incapable of sperm motility and progression
• stage VIII seminiferous tubules exhibit a very low lumen volume and sperm tails are hardly detectable
• testes are grossly smaller than those in wild-type males
• average testicular weight is significantly lower than that in wild-type males
• abnormal residual cytoplasm is noted on the lumen side of elongated spermatids at stage VII
• cauda epididymal spermatozoa lack normal axoneme structures and exhibit a huge cytoplasm with abundant cytoplasmic contents including electron-dense material
• in step 6 spermatids, centrioles contact the cell surface, but not the nucleus; in step 8 spermatids, centrioles follow the sperm nucleus toward the cell surface at the opposite pole, as expected, but no cytoplasmic invagination around the axoneme is observed
• the flagellar compartment does not form properly and cytosol-exposed axonemal microtubules collapse during spermiogenesis
• ectopic localization of accessory structures, such as the fibrous sheath and outer dense fibers, is observed
• sperm tails are hardly detectable in the lumen of seminiferous tubules
• although some spermatozoa appear relatively normal, sloughed germ cells are detected within the epididymis
• a large number of frayed filaments -- identified as microtubules -- are noted in the cauda epididymis
• no pups are born when male mice are naturally mated with wild-type females for 2 months
• however, vaginal plugs are observed

cellular
• adult male mice have fewer spermatozoa; normal spermatozoa are difficult to observe in the cauda epididymis
• proportion of cauda epididymal spermatozoa with normal morphology is dramatically reduced
• sperm tails are hardly found in testicular sections of adult males at all stages examined
• most spermatid flagella are located around round spermatids and only a few are found in the lumen of seminiferous tubules
• cauda epididymal spermatozoa show absence of outer dense fiber structures in the principal piece
• outer dense fibers structures are abnormal in step 8 spermatids; outer dense fibers are not properly localized around the axoneme in step 16 spermatids
• most ODF2 is ectopically localized in step 10 spermatids; however, some ODF2 localizes normally
• step 16 spermatids show collapsed axoneme structures and disintegrated microtubules during spermiogenesis
• cauda epididymal spermatozoa lack normal axonemes; fragmented microtubules attached to outer dense fibers are observed
• however, the 9 + 2 arrangement of microtubule doublets appears normal in step 6 spermatids
• mitochondrial sheaths without normal axoneme structure are observed in step 16 spermatids
• nearly all principal pieces of cauda epididymal spermatozoa do not have fibrous sheath and outer dense fibers, although a faint axoneme is observed
• expression signals of the fibrous sheath-associated proteins AKAP3 and AKAP4 are dramatically reduced
• in elongated spermatids, AKAP3 is abnormally detected as dots without filament-like signals, suggesting impaired elongation of the fibrous sheath
• AKAP3 is scattered in the cytoplasm rather than found on the inner side of the fibrous sheath surface as in control spermatids
• cauda epididymal spermatozoa show absence of a fibrous sheath in the principal piece
• a fibrous sheath surrounding axonemal microtubules and outer dense fibers is rarely observed; however, these structures are not compartmentalized by a flagellar membrane
• elongating spermatids exhibit abnormal head shapes due to abnormal sculpting by the manchette
• step 12 spermatids exhibit abnormalities in manchette morphology and localization
• however, manchette microtubule structures appear normal
• progressive sperm rate is dramatically reduced
• CASA revealed that spermatozoa are incapable of sperm motility and progression

endocrine/exocrine glands
• stage VIII seminiferous tubules exhibit a very low lumen volume and sperm tails are hardly detectable
• testes are grossly smaller than those in wild-type males
• average testicular weight is significantly lower than that in wild-type males





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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory