About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Actrt3em1Hsc
endonuclease-mediated mutation 1, Hubert Schorle
MGI:6718284
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Actrt3em1Hsc/Actrt3em1Hsc involves: C57BL/6 * C57BL/6J * DBA/2 MGI:8290658


Genotype
MGI:8290658
hm1
Allelic
Composition
Actrt3em1Hsc/Actrt3em1Hsc
Genetic
Background
involves: C57BL/6 * C57BL/6J * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Actrt3em1Hsc mutation (0 available); any Actrt3 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• only 48% of epididymal sperm exhibit membrane integrity compared to 80% of control sperm
• however, motility of epididymal sperm activated in THY medium is unaffected and no alternations of flagellum in epididymal sperm is seen, with regular distribution of mitochondria in the midpiece
• males exhibit a decrease in epididymal sperm count, despite the presence of abundant sperm cells in the cauda epididymis
• sperm heads exhibit a slight reduction in area, however head shape is not altered
• sperm heads show an excess of cytoplasm
• 50% of epididymal sperm have vacuolated acrosomes, shortened acrosomes, or acrosomes detached from the nuclear envelope
• on the apical pole of sperm, acrosomes appear normal but drastically shortened or vacuolized, indicating that acrosomes localize properly
• spermatids exhibit defective acrosome development
• the cap structures that form from acrosomal granules on the surface of round spermatids during cap phase are disrupted and unevenly scattered, resulting in vacuolization or detachment from the nuclear surface
• during the maturation phase, acrosomes in elongating spermatids appear thinner in the middle region of the cell and detached from the nucleus
• in the cap phase spermatids, the Golgi apparatus appears detached and displaced from the nuclear envelope, with large vesicles between the growing acrosome and the Golgi
• marker analysis indicates aberrant cis-Golgi trafficking during acrosome biogenesis
• in the equatorial region of the sperm head, most acrosomes are partially detached from the nuclear envelope, indicating that acrosome anchoring is disturbed
• manchette assembly is not affected, but spermatids show an increased gap between the manchette and the developing acrosome at the equatorial ring
• males exhibit subfertility, producing an average litter size of 1.5 compared to 7.5 for wild-type
• however, males show normal testes weight and overall morphology, normal seminiferous epithelium and complete spermatogenesis
• successful acrosome reaction is detected in only 30% of sperm
• sperm show lower fertilization rate in vitro, fertilizing 35% of oocytes compared to 90% with wild-type sperm, and rate of blastocyst formation is reduced to 35% compared to 60% in wild-type sperm
• 56% of blastocysts from fertilization with mutant sperm are stage I, 37% stage II, and only 7% stage III, compared to 31% of blastocysts at stage I, 43% stage II, and 26% stage III from wild-type sperm fertilization
• sperm achieve a fertilization rate of 50% in IVF with zona-free oocytes which is comparable to 54% for wild-type sperm while fertilization in vitro is decreased, indicating a defect in binding ability of sperm to the zona pellucida
• however, oocyte activation during fertilization is unaffected

cellular
• only 48% of epididymal sperm exhibit membrane integrity compared to 80% of control sperm
• however, motility of epididymal sperm activated in THY medium is unaffected and no alternations of flagellum in epididymal sperm is seen, with regular distribution of mitochondria in the midpiece
• males exhibit a decrease in epididymal sperm count, despite the presence of abundant sperm cells in the cauda epididymis
• sperm heads exhibit a slight reduction in area, however head shape is not altered
• sperm heads show an excess of cytoplasm
• 50% of epididymal sperm have vacuolated acrosomes, shortened acrosomes, or acrosomes detached from the nuclear envelope
• on the apical pole of sperm, acrosomes appear normal but drastically shortened or vacuolized, indicating that acrosomes localize properly
• spermatids exhibit defective acrosome development
• the cap structures that form from acrosomal granules on the surface of round spermatids during cap phase are disrupted and unevenly scattered, resulting in vacuolization or detachment from the nuclear surface
• during the maturation phase, acrosomes in elongating spermatids appear thinner in the middle region of the cell and detached from the nucleus
• in the cap phase spermatids, the Golgi apparatus appears detached and displaced from the nuclear envelope, with large vesicles between the growing acrosome and the Golgi
• marker analysis indicates aberrant cis-Golgi trafficking during acrosome biogenesis
• in the equatorial region of the sperm head, most acrosomes are partially detached from the nuclear envelope, indicating that acrosome anchoring is disturbed
• marker analysis indicates impaired autophagosome formation in the testis

homeostasis/metabolism
• marker analysis indicates impaired autophagosome formation in the testis





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
01/20/2026
MGI 6.24
The Jackson Laboratory