About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cfap65em1Yqt
endonuclease-mediated mutation 1, Yue-Qiu Tan
MGI:7316618
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cfap65em1Yqt/Cfap65em1Yqt involves: C57BL/6 * C57BL/6N MGI:7327125


Genotype
MGI:7327125
hm1
Allelic
Composition
Cfap65em1Yqt/Cfap65em1Yqt
Genetic
Background
involves: C57BL/6 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cfap65em1Yqt mutation (0 available); any Cfap65 mutation (91 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at 2 months of age, mice are significantly smaller than wild-type or heterozygous controls
• at 2 months of age, body weight is significantly lower than in wild-type or heterozygous controls

reproductive system
• at 2 months of age, cauda epididymal sperm count is severely reduced relative to that in wild-type or heterozygous controls
• at 2 months of age, epididymal spermatozoa show multiple flagellum defects including absent, coiled, bent, and/or irregular-caliber flagella
• sperm flagella show disorganized/absent outer dense fibers
• sperm flagella show disorganized/absent axonemal components, such as central pairs, outer doublet microtubules and radial spokes
• the central pair complex (CPC) is often absent in the mid-piece and principal piece, but is mostly formed in the end-piece
• in some cases, a broken sperm neck region is observed
• 12.7 +/- 2.5% of sperm show irregular flagella caliber
• assembly of the mitochondrial sheath is disrupted; sperm flagella show abnormally arranged mitochondria with vacuolated or tenuous contents in the mid-piece
• testis TEM showed redundant recruitment of mitochondria that cannot be properly assembled
• 20.9 +/- 3.8% of sperm show absent flagella
• 25.8 +/- 5.5% of sperm show coiled flagella
• an increased number of beheaded sperm with scattered separated heads are observed, indicating a fragile neck region
• 17.9 +/- 2.5% of sperm show bent flagella
• 22.2 +/- 3.1% of sperm show short flagella
• at 2 months of age, 65.7 +/- 4.5% of epididymal spermatozoa show hyper-constricted head shapes or redundant cytoplasm versus 11.4 +/- 4.6% in wild-type controls
• testis PAS staining showed abnormal head shapes with rounded ends of the anterior head and tapered ends of the posterior head at step 9 (stage IX)
• as the nucleus continues elongating, a bulged shape of the apical head and a narrow cylindrical shape of the caudal part is commonly seen
• at steps 14-15, spermatids show misshapen sperm heads with abnormal acrosomes
• at steps 14-15, spermatids show abnormal acrosomal morphologies
• epididymal sperm show either absent or morphologically abnormal acrosomes
• most acrosomes display less condensed contents with scarcely recognizable inner and outer acrosomal membranes
• TEM showed irregularly shaped acrosomes with uncondensed or vacuole-like contents in the perinuclear theca, suggesting failure of acrosome condensation and its attachment to the inner acrosomal membrane in the maturation phase of acrosome biogenesis
• PNA-FITC staining showed poorly condensed PNA-positive structures with a more expanded staining pattern in the perinuclear region during the maturation phase
• at P21, less round spermatids show a flattened acrosomal structure with a very thin layer on the nucleus, suggesting a delay in the elongation phase
• most epididymal spermatozoa show absent (44.5%) or aberrant (27%) PNA staining
• acrosomes may be absent in epididymal sperm
• aberrant acrosomes are separated from the nuclei
• step 9 spermatids exhibit hyper-constricted sperm heads
• step 11-13 spermatids show abnormally elongated and malformed manchette microtubules
• step 14-15 spermatids show misshapen sperm heads with abnormal acrosomes
• TEM analysis showed an ectopic manchette with respect to the edge of the acrosome in steps 8-10 spermatids
• at steps 11-13, the distance from the perinuclear ring to the nuclear cauda is markedly increased
• at 2 months of age, TUNEL staining showed a significantly higher number of apoptotic cells in the seminiferous tubules than in wild-type controls
• cauda epididymal spermatozoa appear to be 100% immotile
• at 2 months of age, H&E staining of seminiferous tubules showed a marked decline in elongating spermatids reaching the tubule lumen
• PAS staining of stage XI-XII tubules showed an increased number of pyknotic germ cells (spermatocytes) with dark staining, indicating apoptosis
• at 2 months of age, testis weight is significantly lower than in wild-type or heterozygous controls
• a reduced number of haploid germ cells enter spermiogenesis along with multiple defects in sperm head shaping and tail formation and increased spermatocyte apoptosis
• hyper-constricted sperm heads are detected in step 9 spermatids along with abnormal manchette development and disruption of acrosome biogenesis in the maturation phase
• flagellar elongation is severely affected with disrupted assembly of the mitochondrial sheath
• steps 8-9 spermatids show reduced electron density in the equatorial zone (including the marginal ring and circumferential groove) and the post-acrosomal region (PAR), suggesting a deficiency of cytoskeleton components
• at steps 11-13, manchette microtubules appear abnormally elongated and malformed
• although male mice are able to mate normally, they fail to produce any pups

cellular
• at 2 months of age, cauda epididymal sperm count is severely reduced relative to that in wild-type or heterozygous controls
• at 2 months of age, epididymal spermatozoa show multiple flagellum defects including absent, coiled, bent, and/or irregular-caliber flagella
• sperm flagella show disorganized/absent outer dense fibers
• sperm flagella show disorganized/absent axonemal components, such as central pairs, outer doublet microtubules and radial spokes
• the central pair complex (CPC) is often absent in the mid-piece and principal piece, but is mostly formed in the end-piece
• in some cases, a broken sperm neck region is observed
• 12.7 +/- 2.5% of sperm show irregular flagella caliber
• assembly of the mitochondrial sheath is disrupted; sperm flagella show abnormally arranged mitochondria with vacuolated or tenuous contents in the mid-piece
• testis TEM showed redundant recruitment of mitochondria that cannot be properly assembled
• 20.9 +/- 3.8% of sperm show absent flagella
• 25.8 +/- 5.5% of sperm show coiled flagella
• an increased number of beheaded sperm with scattered separated heads are observed, indicating a fragile neck region
• 17.9 +/- 2.5% of sperm show bent flagella
• 22.2 +/- 3.1% of sperm show short flagella
• at 2 months of age, 65.7 +/- 4.5% of epididymal spermatozoa show hyper-constricted head shapes or redundant cytoplasm versus 11.4 +/- 4.6% in wild-type controls
• testis PAS staining showed abnormal head shapes with rounded ends of the anterior head and tapered ends of the posterior head at step 9 (stage IX)
• as the nucleus continues elongating, a bulged shape of the apical head and a narrow cylindrical shape of the caudal part is commonly seen
• at steps 14-15, spermatids show misshapen sperm heads with abnormal acrosomes
• at steps 14-15, spermatids show abnormal acrosomal morphologies
• epididymal sperm show either absent or morphologically abnormal acrosomes
• most acrosomes display less condensed contents with scarcely recognizable inner and outer acrosomal membranes
• TEM showed irregularly shaped acrosomes with uncondensed or vacuole-like contents in the perinuclear theca, suggesting failure of acrosome condensation and its attachment to the inner acrosomal membrane in the maturation phase of acrosome biogenesis
• PNA-FITC staining showed poorly condensed PNA-positive structures with a more expanded staining pattern in the perinuclear region during the maturation phase
• at P21, less round spermatids show a flattened acrosomal structure with a very thin layer on the nucleus, suggesting a delay in the elongation phase
• most epididymal spermatozoa show absent (44.5%) or aberrant (27%) PNA staining
• acrosomes may be absent in epididymal sperm
• aberrant acrosomes are separated from the nuclei
• step 9 spermatids exhibit hyper-constricted sperm heads
• step 11-13 spermatids show abnormally elongated and malformed manchette microtubules
• step 14-15 spermatids show misshapen sperm heads with abnormal acrosomes
• steps 8-9 spermatids show reduced electron density in the equatorial zone (including the marginal ring and circumferential groove) and the post-acrosomal region (PAR), suggesting a deficiency of cytoskeleton components
• at steps 11-13, manchette microtubules appear abnormally elongated and malformed
• TEM analysis showed an ectopic manchette with respect to the edge of the acrosome in steps 8-10 spermatids
• at steps 11-13, the distance from the perinuclear ring to the nuclear cauda is markedly increased
• at 2 months of age, TUNEL staining showed a significantly higher number of apoptotic cells in the seminiferous tubules than in wild-type controls
• cauda epididymal spermatozoa appear to be 100% immotile

endocrine/exocrine glands
• at 2 months of age, H&E staining of seminiferous tubules showed a marked decline in elongating spermatids reaching the tubule lumen
• PAS staining of stage XI-XII tubules showed an increased number of pyknotic germ cells (spermatocytes) with dark staining, indicating apoptosis
• at 2 months of age, testis weight is significantly lower than in wild-type or heterozygous controls





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