Analysis Tools
mortality/aging
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• mutants die shortly after birth
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• homozygotes die at birth
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reproductive system
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• all mutant testes have reduced mesenchyme relative to controls
• testis growth, cord formation, and Sertoli and Leydig cell differentiation are disrupted in most XY gonads by E13.5-E14.5
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• depletion of peritubular myoid cells in XY gonads
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• two E13.5 XY gonads show impaired Sertoli cell differentiation
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• disrupted testicular cord formation in XY gonads
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• testis from phenotypically male mice has disorganized testicular cords
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• Ledyig cell differentiation is disrupted in most XY gonads
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• some gonads had disorganized cord development and depleted germ cell populations; all had reduced amounts of mesenchyme
• at E18.5, 2 of 24 homozygotes examined were identified as phenotypic males and showed testicular hypoplasia
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• phenotypically male embryos exhibit epididymal hypoplasia
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• at E18.5, one XY gonad displayed both epididymal-like and uterine tissue
• at E18.5, all 15 gonads from phenotypically female XY mice exhibited predominantly ovarian histology; however, 2 displayed occasional testis cord structures
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• at E18.5, 22 of 24 homozygotes examined had grossly female internal reproductive organs, suggesting male to female sex reversal
• 10 of 14 phenotypic females were in fact genotypic males (XY)
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respiratory system
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• lungs exhibit overall reduced mesenchyme and reduced mesenchymal proliferation at E10.5-E11.5, however no differences in proliferation are seen at E13.5
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• lungs display decreased branching of airways as exhibited by the absence of secondary branching of the accessory lobe at E13.5, dilated and unbranched peripheral buds at E12.5-E13.5, fewer small diameter airways at E13.5-E18.5, and fewer alveolar sacs than controls
• however, mutants do show significant distal airspace formation and pneumocyte differentiation
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• mean weight of E18.5 lungs is 29% that of controls
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• 100% penetrance of lung hypoplasia
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• by 30 minutes after Caesarian section, mutants exhibit agonal breathing and cyanosis
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endocrine/exocrine glands
| N |
• mutants exhibit normal pituitary development
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• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells
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• all mutant testes have reduced mesenchyme relative to controls
• testis growth, cord formation, and Sertoli and Leydig cell differentiation are disrupted in most XY gonads by E13.5-E14.5
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• depletion of peritubular myoid cells in XY gonads
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• two E13.5 XY gonads show impaired Sertoli cell differentiation
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• disrupted testicular cord formation in XY gonads
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• testis from phenotypically male mice has disorganized testicular cords
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• Ledyig cell differentiation is disrupted in most XY gonads
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• some gonads had disorganized cord development and depleted germ cell populations; all had reduced amounts of mesenchyme
• at E18.5, 2 of 24 homozygotes examined were identified as phenotypic males and showed testicular hypoplasia
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craniofacial
cleft palate
(
J:69852
)
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• about 40% of homozygous embryos exhibit cleft palate
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digestive/alimentary system
cleft palate
(
J:69852
)
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• about 40% of homozygous embryos exhibit cleft palate
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• absent cecal development, lacking both mesenchymal expansion and an epithelial bud
• cell proliferation in the embryonic cecum is reduced by 40% in epithelium and 47% in mesenchyme
• mesenchymal proliferation in cecal buds is significantly less than mesenchymal proliferation in the adjacent small intestine or colon, opposite of what is seen in wild-type
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• there is a 35% reduction in the length of the small intestine at E18.5 compared to controls
• differences in length are first evident at E14.5
• lumen diameter is unaffected in these mice suggesting the length of the intestine is altered in one dimension
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• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells
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• proliferation of fibroblasts found in the proximal and distal small intestine mesenchyme is significantly reduced between E14.5 and E18.5
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cardiovascular system
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• variable dilation of cardiac atria is observed at E14.5-E18.5
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• variable dilation of cardiac ventricles is observed at E14.5-E18.5
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growth/size/body
cleft palate
(
J:69852
)
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• about 40% of homozygous embryos exhibit cleft palate
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• total mean body weight at E18.5 is 84% of controls
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homeostasis/metabolism
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• E18.5 pups can breathe initially, however they become severely cyanotic shortly thereafter
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cellular
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• lungs exhibit overall reduced mesenchyme and reduced mesenchymal proliferation at E10.5-E11.5, however no differences in proliferation are seen at E13.5
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