Analysis Tools
mortality/aging
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• death occurs within several hours of birth
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embryo
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• at E11.5, both the mesenchyme and epithelium of the ventral UGS develop abnormally
• at E11.5, apoptosis is significantly increased in the ventral UGS epithelium, as determined by TUNEL assay and cleaved caspase-3 expression
• at E11.5, a reduction in cell proliferation is observed in the UGS mesenchyme relative to wild-type controls, as shown by BrdU staining
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• at E11.5
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• small and misshapen at E11.5
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• at E18.5, homozygotes with bladder exstrophy exhibit umbilical hernia
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limbs/digits/tail
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• at E11.5
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• small and misshapen at E11.5
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• truncated
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• all are missing
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• absent
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• usually truncated, thinner than normal and deformed
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absent radius
(
J:54636
)
absent ulna
(
J:54636
)
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• sometimes absent
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skeleton
absent teeth
(
J:54636
)
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• all are missing
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• absent
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• usually truncated, thinner than normal and deformed
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absent radius
(
J:54636
)
absent ulna
(
J:54636
)
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• sometimes absent
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• pelvic girdle usually present but lacking ossification centers
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• at E18.5, homozygotes with bladder exstrophy exhibit absence of pubic symphysis at the midline (i.e. separation of the pubic bones)
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craniofacial
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• abnormal faces
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absent teeth
(
J:54636
)
homeostasis/metabolism
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• water loss occurs 30X more rapidly than in controls, a skin permeability problem
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integument
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• skin at birth totally lacks hair follicles
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• reduced to a single layer of flattened cells
• epithelium of tongue and oral cavity is similar to the epidermis
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shiny skin
(
J:54636
)
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• epidermal development apparently stops around E9.5
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• water loss occurs 30X more rapidly than in controls, a skin permeability problem
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renal/urinary system
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• at E18.5, 4 of 12 homozygotes display bladder exstrophy with ventral bladder- and abdominal-wall defects (with and without membrane cover)
• the remaining 8 embryos develop dilated bladders with both thin lamina propria and thin muscle layers
• at E18.5, the lamina propria is either greatly reduced or absent
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• at E18.5, 8 of 12 homozygotes exhibit dilated bladders with thin muscle layers
• at E14.5, premature smooth-muscle differentiation is observed relative to wild-type bladders
• at E18.5, little or no smooth muscle is detected ventrally, while a thin layer of smooth muscle is retained dorsally
• dorsal smooth muscle appears disorganized and non-stratified, unlike in wild-type bladders
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• at E18.5, an abnormal bladder epithelium is observed along the dorso-ventral axis, with the dorsal epithelium consisting mainly of simple cuboidal cells and the ventral epithelium consisting primarily of simple squamous cells
• the ventral urothelium is neither committed to stratification nor differentiated, whereas the dorsal urothelium is both committed and differentiated
• at E11.5, a reduction in cell proliferation is observed in the ventral bladder epithelium and in adjacent mesenchyme relative to wild-type controls, as shown by BrdU staining
• at E12.5, an increase in ventral bladder epithelial apoptosis is associated with a transient upregulation of p53 and p73 expression
• at E12.5 and E13.5, developing bladders exhibit increased mitochondrial apoptotic activity relative to wild-type controls
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• at E18.5, the bladder epithelium fails to differentiate into stratified transitional urothelium and remains as a single layer, unlike in wild-type controls
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• at E18.5, 8 of 12 homozygotes develop dilated bladders with both thin lamina propria and thin muscle layers
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reproductive system
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• at E18.5, homozygotes with bladder exstrophy exhibit absence of external genitalia at the midline (i.e. bifid genitalia)
• separation of external genitalia is already noted at E11.5
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growth/size/body
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• abnormal faces
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absent teeth
(
J:54636
)
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• at E18.5, 4 of 12 homozygotes display ventral abdominal wall defects
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|
• at E18.5, 4 of 12 homozygotes display bladder exstrophy with ventral bladder- and abdominal-wall defects (with and without membrane cover)
• the remaining 8 embryos develop dilated bladders with both thin lamina propria and thin muscle layers
• at E18.5, the lamina propria is either greatly reduced or absent
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digestive/alimentary system
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• at E18.5, homozygotes with bladder exstrophy exhibit ventral translocation of the anus
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muscle
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• at E18.5, 8 of 12 homozygotes exhibit dilated bladders with thin muscle layers
• at E14.5, premature smooth-muscle differentiation is observed relative to wild-type bladders
• at E18.5, little or no smooth muscle is detected ventrally, while a thin layer of smooth muscle is retained dorsally
• dorsal smooth muscle appears disorganized and non-stratified, unlike in wild-type bladders
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cellular
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• at E11.5, apoptosis is significantly increased in the ventral UGS epithelium, in skin overlying the urogenital tubercles, and in oral-cavity epithelium, as determined by TUNEL assay and/or cleaved caspase-3 expression
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• at E12.5 and E13.5, developing bladders exhibit increased mitochondrial apoptotic activity, as revealed by increased expression of the mitochondrial apoptotic mediators
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| bladder exstrophy | DOID:0080174 |
OMIM:600057 |
J:119657 | |
| ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | DOID:0060783 |
OMIM:604292 |
J:54636 | |
