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Phenotypes Associated with This Genotype
Genotype
MGI:7281440
Allelic
Composition
Ppp4cem1Qys/Ppp4cem1Qys
Tg(Stra8-icre)1Reb/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp4cem1Qys mutation (0 available); any Ppp4c mutation (41 available)
Tg(Stra8-icre)1Reb mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• tail bending (head-bent-back) is consistently observed in the midpiece of the sperm tail
• cytoplasmic remnants are attached to the midpiece
• however, mitochondrial sheath assembly is normal
• ~91% of spermatozoa in the testes and cauda epididymis exhibit abnormal tail bending (head-bent-back)
• bending sites are always observed in the midpiece of the tail, not in the head or principal piece
• TEM analysis showed that the tail bent at the midpiece is held together by tissues resembling remnants of cytoplasm
• at 2 months of age, the total number of sperm in the cauda epididymes is decreased by ~50% relative to that in controls males
• TUNEL staining showed significant spermatocyte cell loss in the seminiferous epithelium
• however, spermatogonia cell survival is normal
• TUNEL staining showed a significant increase in the number of apoptotic cells in the testes relative to control males
• TUNEL+ signals are colocalized with the spermatocyte cell marker synaptonemal complex protein-3 (SYCP3), but not with the spermatogonia cell marker ZBTB16 (aka PLZF), indicating spermatocyte cell loss in the seminiferous epithelium
• at 2 months of age, the percentage of progressive sperm is markedly reduced
• at 2 months of age, the percentage of motile sperm is markedly reduced
• some seminiferous tubules appear disorganized with large vacuoles while others show normal tubule structure in histology
• at 2 months of age, testes size is significantly smaller than in control males
• weight of adult testes is significantly lower than in control males
• however, adult body weight is normal
• cytoplasmic remnants are abnormally retained on the bent midpiece, indicating a defect in cytoplasm removal from elongated spermatids which in turn leads to the failure of spermiogenesis
• however, many aspects of spermatogenesis, including acrosome formation, nuclear condensation and elongation, mitochondrial sheath arrangement and 9 + 2 flagellar structure assembly, are normal
• when mated with wild-type females, adult male mice do not produce any progeny despite normal vaginal plug formation
• male infertility can be overcome by intracytoplasmic injection-embryo transfer (ICSI-ET) but male offspring is sub-fertile
• although tail-bending spermatozoa are found in the vaginal plug after natural mating, no sperm are found in COCs of oviductal ampullae and no two pronuclei formation is observed
• in an IVF assay, the number of spermatozoa bound to the zona pellucida is significantly decreased and sperm fail to fertilize the eggs and develop to the 2-cell stage
• spermatozoa fail to fertilize eggs by natural mating or IVF
• the number of spermatozoa bound to the zona pellucida of metaphase II oocytes is significantly decreased after IVF

cellular
• tail bending (head-bent-back) is consistently observed in the midpiece of the sperm tail
• cytoplasmic remnants are attached to the midpiece
• however, mitochondrial sheath assembly is normal
• ~91% of spermatozoa in the testes and cauda epididymis exhibit abnormal tail bending (head-bent-back)
• bending sites are always observed in the midpiece of the tail, not in the head or principal piece
• TEM analysis showed that the tail bent at the midpiece is held together by tissues resembling remnants of cytoplasm
• at 2 months of age, the total number of sperm in the cauda epididymes is decreased by ~50% relative to that in controls males
• TUNEL staining showed significant spermatocyte cell loss in the seminiferous epithelium
• however, spermatogonia cell survival is normal
• TUNEL staining showed a significant increase in the number of apoptotic cells in the testes relative to control males
• TUNEL+ signals are colocalized with the spermatocyte cell marker synaptonemal complex protein-3 (SYCP3), but not with the spermatogonia cell marker ZBTB16 (aka PLZF), indicating spermatocyte cell loss in the seminiferous epithelium
• at 2 months of age, the percentage of progressive sperm is markedly reduced
• at 2 months of age, the percentage of motile sperm is markedly reduced

endocrine/exocrine glands
• some seminiferous tubules appear disorganized with large vacuoles while others show normal tubule structure in histology
• at 2 months of age, testes size is significantly smaller than in control males
• weight of adult testes is significantly lower than in control males
• however, adult body weight is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
oligoasthenoteratozoospermia DOID:0070311 J:309155


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