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Phenotypes Associated with This Genotype
Genotype
MGI:6865772
Allelic
Composition
Cfap69tm1b(KOMP)Wtsi/Cfap69tm1b(KOMP)Wtsi
Genetic
Background
involves: C57BL/6N
Cell Lines EPD0713_1_E05
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap69tm1b(KOMP)Wtsi mutation (1 available); any Cfap69 mutation (58 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• females produce offspring at a rate similar to that of wild-type females
• all epididymal sperm exhibit severe morphology defects that affect the entire flagellum
• epididymal sperm flagella frequently show splaying into multiple thin filaments along the full length of the principal piece or in certain regions; filaments show a variety of conformations, including coiled, looped, and tangled
• some epididymal sperm exhibit unusual structures perforated with thin filaments in place of their flagellum
• TEM analysis of testicular sperm shows flagellum components in a severe state of disarray within bodies of cytoplasm
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
• TEM analysis of testicular sperm shows that axoneme organization is severely disrupted
• although doublet and singlet microtubules are still often found to associate with ODFs, their numbers and arrangement are variable
• split microtubule doublets are also observed
• large numbers of singlet microtubules, likely from the manchette, are frequently observed
• thickness and length of the midpiece is variable
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
• although some mitochondria appear to localize to regions normally corresponding to the midpiece, many mitochondria are found throughout the cytoplasm
• fibrous sheath is disorganized and largely absent
• some sperm lack a flagellum
• both midpiece and principal piece are shortened, resulting in overall shorter flagella
• a subset of sperm display abnormal head morphologies ranging from mild to severe
• abnormally localized manchette microtubules are observed
• cauda epididymal sperm are immotile
• although sperm with abnormal flagella can be found in the lumen of seminiferous tubules, long flagella are noticeably absent from the lumen
• abnormal organization of all sperm flagellum components indicates a failure of sperm flagellum development during spermiogenesis
• however, major processes of the spermatogenic cycle and some spermiogenesis processes, including meiosis, acrosome development and nuclear condensation and elongation, appear normal
• 6-wk-old or older males fail to produce any offspring over 3 months of breeding with age-matched wild-type females
• however, mating behavior is normal

cellular
• all epididymal sperm exhibit severe morphology defects that affect the entire flagellum
• epididymal sperm flagella frequently show splaying into multiple thin filaments along the full length of the principal piece or in certain regions; filaments show a variety of conformations, including coiled, looped, and tangled
• some epididymal sperm exhibit unusual structures perforated with thin filaments in place of their flagellum
• TEM analysis of testicular sperm shows flagellum components in a severe state of disarray within bodies of cytoplasm
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
• TEM analysis of testicular sperm shows that axoneme organization is severely disrupted
• although doublet and singlet microtubules are still often found to associate with ODFs, their numbers and arrangement are variable
• split microtubule doublets are also observed
• large numbers of singlet microtubules, likely from the manchette, are frequently observed
• thickness and length of the midpiece is variable
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
• although some mitochondria appear to localize to regions normally corresponding to the midpiece, many mitochondria are found throughout the cytoplasm
• fibrous sheath is disorganized and largely absent
• some sperm lack a flagellum
• both midpiece and principal piece are shortened, resulting in overall shorter flagella
• a subset of sperm display abnormal head morphologies ranging from mild to severe
• abnormally localized manchette microtubules are observed
• cauda epididymal sperm are immotile

endocrine/exocrine glands
• although sperm with abnormal flagella can be found in the lumen of seminiferous tubules, long flagella are noticeably absent from the lumen

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spermatogenic failure 24 DOID:0111929 OMIM:617959
J:263440


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