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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cep76em1Mkob
endonuclease-mediated mutation 1, Moira O'Bryan
MGI:8217381
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cep76em1Mkob/Cep76em1Mkob C57BL/6J-Cep76em1Mkob MGI:8436571


Genotype
MGI:8436571
hm1
Allelic
Composition
Cep76em1Mkob/Cep76em1Mkob
Genetic
Background
C57BL/6J-Cep76em1Mkob
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep76em1Mkob mutation (0 available); any Cep76 mutation (39 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
• the distance between the annulus and the nucleus is shorter in sperm
• although the annulus is often associated with the fibrous sheath, it is rarely found aligned at the distal end of the mitochondrial sheath and as a result, a region of exposed outer dense fibers is seen between the mitochondrial sheath and the annulus or fibrous sheath
• principal pieces show absent outer dense fibers in many sperm tails
• outer dense fibers are exposed at the distal midpiece in 97% of sperm compared to 10% of wild-type sperm
• sperm samples show a 2-fold increase in sperm decapitation, suggesting a weakened head-tail coupling apparatus
• sperm neck region is abnormal, including imperfect capitulum structures and a build-up of mitochondria and ectopic vesicles
• sperm tail midpiece shows a build-up of mitochondria and membranes, abnormal mitochondria with enlarged spacing within mitochondrial matrixes, and mitochondrial aggregation
• outer dense fibers are exposed at the distal midpiece in 97% of sperm compared to 10% of wild-type sperm
• abnormal formation of the annulus such that the annulus is not clearly distinguishable
• 90% of sperm show defects in annulus positioning
• the annulus is often embedded within the proximal region of the fibrous sheath rather than at the junction of midpiece
• sperm show a reduction in mitochondrial sheath quality
• mitochondrial packing in epididymal sperm is irregular and characterized by misaligned and poorly compacted mitochondria along the mitochondrial sheath
• sperm tail midpiece shows a build-up of mitochondria and membranes, abnormal mitochondria with enlarged spacing within mitochondrial matrixes, and mitochondrial aggregation
• principal pieces show absent outer dense fibers and microtubule doublets in many sperm tails
• rarely, mitochondria are ectopically incorporated within the principle piece (presence of overlapping fibrous sheath and mitochondria)
• large deformations in the fibrous sheath, with fragmented fibrous sheath components
• fibrous sheath formation is notably impaired; the gaps/slits between circumferential ribs that are seen in wild-type sperm are rare, and in many cases, the ribs appear to be unanchored and projected from the body of the tail
• the proximal portion of the fibrous sheath appears to be the most disorganized
• total sperm length, principal piece length, and midpiece length are shorter by 15%, 16%, and 25%, respectively
• more than 40% of sperm exhibit defects in head shape
• 35% of sperm exhibit abnormal acrosomes compared to 3% of wild-type sperm
• approximately 70% of sperm heads have abnormal nuclear morphology
• sperm samples show a 2-fold increase in sperm decapitation, suggesting a weakened head-tail coupling apparatus
• 18% of spermatids possess 3 or more centriole structures and only 70% of cells contain 2 centrioles
• however, formation of manchette appears normal
• although daily sperm production is similar to wild-type males, the number of sperm within the epididymides is reduced to about 35% of wild-type levels
• the reduced sperm number in epididymis with normal daily sperm production is due in part to spermiation failure as sperm are retained within the seminiferous epithelium
• however, spermatogenesis, with the exception of spermiation failure, appears normal
• the virtual absence of forward, progressively motile sperm (0.4% vs. 42.4% of wild-type sperm)
• reduction in the percentage of sperm showing any form or motility, with 6% of sperm showing motility compared to 80% in wild-type sperm

cellular
• the distance between the annulus and the nucleus is shorter in sperm
• although the annulus is often associated with the fibrous sheath, it is rarely found aligned at the distal end of the mitochondrial sheath and as a result, a region of exposed outer dense fibers is seen between the mitochondrial sheath and the annulus or fibrous sheath
• principal pieces show absent outer dense fibers in many sperm tails
• outer dense fibers are exposed at the distal midpiece in 97% of sperm compared to 10% of wild-type sperm
• sperm samples show a 2-fold increase in sperm decapitation, suggesting a weakened head-tail coupling apparatus
• sperm neck region is abnormal, including imperfect capitulum structures and a build-up of mitochondria and ectopic vesicles
• sperm tail midpiece shows a build-up of mitochondria and membranes, abnormal mitochondria with enlarged spacing within mitochondrial matrixes, and mitochondrial aggregation
• outer dense fibers are exposed at the distal midpiece in 97% of sperm compared to 10% of wild-type sperm
• abnormal formation of the annulus such that the annulus is not clearly distinguishable
• 90% of sperm show defects in annulus positioning
• the annulus is often embedded within the proximal region of the fibrous sheath rather than at the junction of midpiece
• sperm show a reduction in mitochondrial sheath quality
• mitochondrial packing in epididymal sperm is irregular and characterized by misaligned and poorly compacted mitochondria along the mitochondrial sheath
• sperm tail midpiece shows a build-up of mitochondria and membranes, abnormal mitochondria with enlarged spacing within mitochondrial matrixes, and mitochondrial aggregation
• principal pieces show absent outer dense fibers and microtubule doublets in many sperm tails
• rarely, mitochondria are ectopically incorporated within the principle piece (presence of overlapping fibrous sheath and mitochondria)
• large deformations in the fibrous sheath, with fragmented fibrous sheath components
• fibrous sheath formation is notably impaired; the gaps/slits between circumferential ribs that are seen in wild-type sperm are rare, and in many cases, the ribs appear to be unanchored and projected from the body of the tail
• the proximal portion of the fibrous sheath appears to be the most disorganized
• total sperm length, principal piece length, and midpiece length are shorter by 15%, 16%, and 25%, respectively
• more than 40% of sperm exhibit defects in head shape
• 35% of sperm exhibit abnormal acrosomes compared to 3% of wild-type sperm
• approximately 70% of sperm heads have abnormal nuclear morphology
• sperm samples show a 2-fold increase in sperm decapitation, suggesting a weakened head-tail coupling apparatus
• 18% of spermatids possess 3 or more centriole structures and only 70% of cells contain 2 centrioles
• however, formation of manchette appears normal
• although daily sperm production is similar to wild-type males, the number of sperm within the epididymides is reduced to about 35% of wild-type levels
• the reduced sperm number in epididymis with normal daily sperm production is due in part to spermiation failure as sperm are retained within the seminiferous epithelium
• however, spermatogenesis, with the exception of spermiation failure, appears normal
• the virtual absence of forward, progressively motile sperm (0.4% vs. 42.4% of wild-type sperm)
• reduction in the percentage of sperm showing any form or motility, with 6% of sperm showing motility compared to 80% in wild-type sperm





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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
09/15/2026
MGI 6.29
The Jackson Laboratory