About   Help   FAQ
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





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/19/2024
MGI 6.24
The Jackson Laboratory