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Phenotypes Associated with This Genotype
Genotype
MGI:6887647
Allelic
Composition
Dicer1tm1Bdh/Dicer1tm1Bdh
Tg(NEUROG3-cre)1Herr/0
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Bdh mutation (4 available); any Dicer1 mutation (94 available)
Tg(NEUROG3-cre)1Herr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• only very few cauda epididymal sperm appear normal: EM showed small abnormally shaped nuclei, bending of tails from the neck region, and excess of cytoplasm
• cauda epididymal sperm show tail anomalies, including thin tails and disorganized accessory structures
• some epididymal sperm tails exhibit a mislocalized mitochondrial sheath
• some epididymal sperm tails show absence of the mitochondrial sheath
• many epididymal sperm tails lack a detectable anti-AKAP4-positive fibrous sheath
• some epididymal sperm show bending of tails from the neck region
• cauda epididymal sperm show defective head structures including small heads and abnormal head shapes
• fragmented acrosomes and abnormal acrosomal vacuoles are frequently observed and Golgi complexes appear remarkably prominent in round spermatids
• several pin-head spermatozoa with tubulin-positive thin tails but no DAPI-positive nuclei are detected
• EM of epididymal sperm showed small abnormally shaped nuclei
• however, some germ cells are able to undergo condensation as shown by the presence of condensed nuclei among both testicular elongating spermatids and mature sperm
• epididymal sperm show small abnormal heads that are frequently bent over the tail
• pin-head sperm with tubulin-positive axonemal structures but no DAPI-positive heads are frequently detected
• condensed elongating spermatids show defects in head shaping, disorganized manchettes and abnormal bending of the head
• spermatid elongation is severely disrupted; only very few normal step 15-16 spermatids are detected
• nearly all late spermatids exhibit abnormal head shape and chromatin condensation and a disrupted organization of tail accessory structures including a disorganized midpiece
• step 9 spermatids show defective polarization of the head, with H1T2 (a testis-specific histone H1 variant) no longer polarized underneath the developing acrosome; instead, H1T2 shows a bipolar localization pattern at both the apical and basal side of the nucleus
• step 9-12 elongating spermatids display a disorganized manchette
• anti-tubulin staining revealed that the manchette is distributed more randomly in the cytoplasm of elongating spermatids, often surrounding the whole nucleus
• at 8 weeks of age, the number of haploid germ cells is lower than that in control testis (53% versus 74.7%)
• number of mature spermatozoa is drastically reduced in the cauda epididymis
• at 8 weeks of age, TUNEL staining revealed an increased number of apoptotic spermatocytes in the seminiferous tubules both at stages XII-I and at stages IV-V
• adult testis size is ~50% smaller than that in control males
• at 8 weeks of age, stage VII-VIII seminiferous tubules show a severe disruption in spermatid elongation, as determined by the amount, organization and nuclear morphology of elongating spermatids
• stages of the seminiferous epithelial cycle are often disorganized with haploid cells from different developmental stages being mixed in the same cross sections
• arrest in spermatid elongation appears to occur before initiation of nuclear condensation, as indicated by the high number of uncondensed elongating spermatids, presence of hyperacetylated H3-positive elongating spermatids in all the stages of seminiferous epithelial cycle, and low number of protamine-positive nuclei
• however, spermatogonia and early meiotic cells appear normal and overall organization of Sertoli and germ cells in the seminiferous epithelium is unaffected
• numerous exfoliated immature germ cells are frequently found in the epididymal lumen
• adult males fail to sire pups after mating with wild-type females

cellular
• only very few cauda epididymal sperm appear normal: EM showed small abnormally shaped nuclei, bending of tails from the neck region, and excess of cytoplasm
• cauda epididymal sperm show tail anomalies, including thin tails and disorganized accessory structures
• some epididymal sperm tails exhibit a mislocalized mitochondrial sheath
• some epididymal sperm tails show absence of the mitochondrial sheath
• many epididymal sperm tails lack a detectable anti-AKAP4-positive fibrous sheath
• some epididymal sperm show bending of tails from the neck region
• cauda epididymal sperm show defective head structures including small heads and abnormal head shapes
• fragmented acrosomes and abnormal acrosomal vacuoles are frequently observed and Golgi complexes appear remarkably prominent in round spermatids
• several pin-head spermatozoa with tubulin-positive thin tails but no DAPI-positive nuclei are detected
• EM of epididymal sperm showed small abnormally shaped nuclei
• however, some germ cells are able to undergo condensation as shown by the presence of condensed nuclei among both testicular elongating spermatids and mature sperm
• epididymal sperm show small abnormal heads that are frequently bent over the tail
• pin-head sperm with tubulin-positive axonemal structures but no DAPI-positive heads are frequently detected
• spermatid elongation is severely disrupted; only very few normal step 15-16 spermatids are detected
• nearly all late spermatids exhibit abnormal head shape and chromatin condensation and a disrupted organization of tail accessory structures including a disorganized midpiece
• step 9 spermatids show defective polarization of the head, with H1T2 (a testis-specific histone H1 variant) no longer polarized underneath the developing acrosome; instead, H1T2 shows a bipolar localization pattern at both the apical and basal side of the nucleus
• condensed elongating spermatids show defects in head shaping, disorganized manchettes and abnormal bending of the head
• step 9-12 elongating spermatids display a disorganized manchette
• anti-tubulin staining revealed that the manchette is distributed more randomly in the cytoplasm of elongating spermatids, often surrounding the whole nucleus
• at 8 weeks of age, the number of haploid germ cells is lower than that in control testis (53% versus 74.7%)
• number of mature spermatozoa is drastically reduced in the cauda epididymis
• Golgi complexes appear remarkably prominent in round spermatids
• at 8 weeks of age, TUNEL staining revealed an increased number of apoptotic spermatocytes in the seminiferous tubules both at stages XII-I and at stages IV-V

endocrine/exocrine glands
• adult testis size is ~50% smaller than that in control males


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
05/14/2024
MGI 6.23
The Jackson Laboratory