reproductive system
azoospermia
(
J:167522
)
|
• lack of mature sperm and arrest in spermatogenesis in 6 weeks old testis
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• reduced chiasmata (MLH1+) in spermatocytes
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• cannot complete homologous chromosome pairing
• greater than 20 centromeric (CREST+) foci in spermatocytes and oocytes in meiosis I
• persistence of pre-synaptic number of centromeric foci in spermatocytes
• lack of the typical tripartite synaptonemal complex structure in spermatocytes
• dramatic decrease in the number of homologous pairing (DMC1+, RAD51+) and single stranded DNA regions (RPA+) in spermatocytes
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• dramatic decrease in the number of homologous pairing (DMC1+, RAD51+) and single stranded DNA regions (RPA+) in E15.5 oocytes
• decreased number of double strand breaks (gammaH2AX+) in spermatocytes and E15.5 oocytes
• grossly normal ovarian development
|
|
• second metaphase in mutant oocytes is grossly disrupted with mis-orientation of chromatid attachment to the spindle
|
|
• meiotic arrest at the pachytene stage in male
• no post-meiotic germ cells such as spermatids or spermatozoa
• declining number of spermatocytes beginning in stages II-III
• no stages IV-IX spermatocytes in 6 weeks old testis
• lack of sex body formation in spermatocytes
|
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• many apoptotic cells and few pachytene spermatocytes in 14 days old testis
• higher apoptotic index at 2 weeks of post-natal life and beyond
• rising apoptotic index with age
|
|
• hypocellular seminiferous tubules with clumps of Sertoli cells in the lumen in 6 weeks old testis
• many apoptotic cells and few pachytene spermatocytes in 14 days old testis
|
small testis
(
J:167522
)
|
• reduced testicular size from 4 week old male
|
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• reduced testicular weight from 4 week old male
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• no implantation of mutant fertilized eggs
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• no pups produced over a period of 6 months from mating with wild-type male mice
• no gross morphologic differences in ovaries
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• no pups produced over a period of 6 months from mating with wild-type female mice
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cellular
azoospermia
(
J:167522
)
|
• lack of mature sperm and arrest in spermatogenesis in 6 weeks old testis
|
aneuploidy
(
J:167522
)
• widespread aneuploidy involving different chromosomes in both 2-cell and 8-cell embryos
|
• reduced chiasmata (MLH1+) in spermatocytes
|
• cannot complete homologous chromosome pairing
• greater than 20 centromeric (CREST+) foci in spermatocytes and oocytes in meiosis I
• persistence of pre-synaptic number of centromeric foci in spermatocytes
• lack of the typical tripartite synaptonemal complex structure in spermatocytes
• dramatic decrease in the number of homologous pairing (DMC1+, RAD51+) and single stranded DNA regions (RPA+) in spermatocytes
|
|
• dramatic decrease in the number of homologous pairing (DMC1+, RAD51+) and single stranded DNA regions (RPA+) in E15.5 oocytes
• decreased number of double strand breaks (gammaH2AX+) in spermatocytes and E15.5 oocytes
• grossly normal ovarian development
|
|
• second metaphase in mutant oocytes is grossly disrupted with mis-orientation of chromatid attachment to the spindle
|
|
• meiotic arrest at the pachytene stage in male
• no post-meiotic germ cells such as spermatids or spermatozoa
• declining number of spermatocytes beginning in stages II-III
• no stages IV-IX spermatocytes in 6 weeks old testis
• lack of sex body formation in spermatocytes
|
|
• many apoptotic cells and few pachytene spermatocytes in 14 days old testis
• higher apoptotic index at 2 weeks of post-natal life and beyond
• rising apoptotic index with age
|
embryo
• early embryo demise and failure of implantation
• increased number of 1-cell embryos, indicating a lag in the progression from the 1-cell to 2-cell stage at E1.5
• less normal appearing 8-cell stage embryos, increased number of 2- and 4-cell embryos at E2.5
• no morphologically normal blastocysts, only 4 and 8 cell stage embryos at E3.5
|
• early embryo demise and failure of implantation
• increased number of 1-cell embryos, indicating a lag in the progression from the 1-cell to 2-cell stage at E1.5
• less normal appearing 8-cell stage embryos, increased number of 2- and 4-cell embryos at E2.5
• no morphologically normal blastocysts, only 4 and 8 cell stage embryos at E3.5
|
endocrine/exocrine glands
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• hypocellular seminiferous tubules with clumps of Sertoli cells in the lumen in 6 weeks old testis
• many apoptotic cells and few pachytene spermatocytes in 14 days old testis
|
small testis
(
J:167522
)
|
• reduced testicular size from 4 week old male
|
|
• reduced testicular weight from 4 week old male
|