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Phenotypes Associated with This Genotype
Genotype
MGI:3511141
Allelic
Composition
Trp63tm2Brd/Trp63tm2Brd
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp63tm2Brd mutation (1 available); any Trp63 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death occurs within several hours of birth

embryo
• 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
• small and misshapen at E11.5
• at E18.5, homozygotes with bladder exstrophy exhibit umbilical hernia

limbs/digits/tail
• small and misshapen at E11.5
• usually truncated, thinner than normal and deformed
• sometimes absent
• all are missing

skeleton
• usually truncated, thinner than normal and deformed
• sometimes absent
• all are missing
• pelvic girdle usually present but lacking ossification centers
• at E18.5, homozygotes with bladder exstrophy exhibit absence of pubic symphysis at the midline (i.e. separation of the pubic bones)

craniofacial
• "abnormal facies"

homeostasis/metabolism
• water loss occurs 30X more rapidly than in controls, a skin permeability problem

integument
• skin at birth totally lacks hair follicles
• reduced to a single layer of flattened cells
• epithelium of tongue and oral cavity is similar to the epidermis
• epidermal development apparently stops around E9.5
• water loss occurs 30X more rapidly than in controls, a skin permeability problem

renal/urinary system
• 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
• 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
• 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
• at E18.5, the bladder epithelium fails to differentiate into stratified transitional urothelium and remains as a single layer, unlike in wild-type controls
• at E18.5, 8 of 12 homozygotes develop dilated bladders with both thin lamina propria and thin muscle layers

reproductive system
• 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

growth/size/body
• "abnormal facies"
• at E18.5, 4 of 12 homozygotes display ventral abdominal wall defects
• 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

digestive/alimentary system
• at E18.5, homozygotes with bladder exstrophy exhibit ventral translocation of the anus

muscle
• 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

cellular
• 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
• at E12.5 and E13.5, developing bladders exhibit increased mitochondrial apoptotic activity, as revealed by increased expression of the mitochondrial apoptotic mediators


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory