Analysis Tools
cellular
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• the few oocytes detected at birth are in the process of degeneration
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• female homozygotes exhibit reduced oocyte development
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• at birth, mutant ovaries exhibit oocyte depletion with less than 10% of the oocyte numbers scored in wild-type or heterozygous ovaries
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mortality/aging
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• homozygotes die within 24 hrs of birth due to kidney failure
• however, homozygotes are recovered at the expected Mendelian frequency at late stages of gestation
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renal/urinary system
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• at E18.5, agenic kidneys consist of undifferentiated mesenchyme interspersed with branches of collecting duct epithelium
• at E15, 30% of kidneys show no histological signs of mesenchymal aggregation and lack pretubular aggregates or more developed tubules; the rest exhibit a few poorly developed pretubular aggregates
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• at E15, no comma-shaped or S-shaped bodies (stage II nephrons) are observed, unlike in wild-type embryos
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• at E15, kidneys are growth retarded and the mesenchyme persists in an undifferentiated state
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absent kidney
(
J:21884
)
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• all E18.5 and newborn homozygotes display agenic kidneys
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reproductive system
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• the few oocytes detected at birth are in the process of degeneration
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• female homozygotes exhibit reduced oocyte development
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• at birth, mutant ovaries exhibit oocyte depletion with less than 10% of the oocyte numbers scored in wild-type or heterozygous ovaries
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• at birth, the female gonad is rounded, lacks a capsule, and develops closely associated with a fat pad thus resembling the male gonad
• in contrast to the masculinized ovary and proximal sex ducts, female external genitalia develop normally
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• Wolffian duct development and Mullerian duct regression are normal in mutant males but both also occur in mutant females
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• at E18.5, the gonad and proximal sex ducts of mutant females appear masculinized, Mullerian ducts are absent, and two Wolffian specific duct cell markers (Pax2 and Shh) identify a single ovary-associated duct with a highly convoluted proximal region resembling the epididymal region of the male Wolffian duct
• unlike the wild-type ovary, Sertoli cell markers (MIS and Dhh) are ectopically expressed in the sex cords of mutant females at birth, indicating a partial somatic sex reversal in the absence of oocytes
• in addition, patchy ectopic expression of Leydig cell markers (3Beta-HSD and 17alpha-hydroxylase) is noted in the ovary from E14.5 until birth
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hematopoietic system
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• at E15-E16, homozygotes show a 20-30% reduction in thymocyte number relative to wild-type embryos
• however, T cell maturation during fetal development appears unaffected
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immune system
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• at E15-E16, homozygotes show a 20-30% reduction in thymocyte number relative to wild-type embryos
• however, T cell maturation during fetal development appears unaffected
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embryo
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• at E14.5, Mullerian duct development is absent in females and specific Mullerian cell markers (Wnt7a and Pax8) are not detected
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endocrine/exocrine glands
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• at E15-E16, homozygotes show a 20-30% reduction in thymocyte number relative to wild-type embryos
• however, T cell maturation during fetal development appears unaffected
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• at birth, the female gonad is rounded, lacks a capsule, and develops closely associated with a fat pad thus resembling the male gonad
• in contrast to the masculinized ovary and proximal sex ducts, female external genitalia develop normally
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nervous system
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• mice exhibit normal numbers of thoracic motor neurons and proportions of motor columnar subtypes
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