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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





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory