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Phenotypes Associated with This Genotype
Genotype
MGI:2174785
Allelic
Composition
Trp63tm1Fmc/Trp63tm1Fmc
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp63tm1Fmc mutation (0 available); any Trp63 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 1 day of birth, from dessication and maternal neglect, secondary to developmental malformations

embryo
• recto-vaginal septum is absent, resulting in common cloacal opening
• from E9-12.5, limb buds are reduced and dysmorphic
• AER is absent and limb bud has only a simple, single-layered epithelium at distal tip
• at E9-12.5
• small, resulting in shortening of tail

craniofacial
• mice show dysmorphic craniofacial bone development
• mice have small, truncated mandibles compared to wild-type
• mice have small, truncated maxilla compared to wild-type
• secondary palate is truncated
• stratified squamous epithelium is replaced by 1-2 layers of cuboidal epithelial cells

limbs/digits/tail
• small, resulting in shortening of tail
• at E15, homozygotes lack distal components of the forelimb, including the radius, carpals and digits
• limb truncations due to failure to maintain the apical ectodermal ridge (AER)
• from E9-12.5, limb buds are reduced and dysmorphic
• AER is absent and limb bud has only a simple, single-layered epithelium at distal tip
• at E9-12.5
• at E15, homozygotes lack all components of the hindlimb

skeleton
• mice have small, truncated mandibles compared to wild-type
• mice have small, truncated maxilla compared to wild-type

digestive/alimentary system
• secondary palate is truncated
• stratified squamous epithelium is replaced by 1-2 layers of cuboidal epithelial cells
• there are abundant ciliated and goblet cells that are not seen in wild-type esophageal epithelium
• esophageal lining shows pseudostratified columnar appearance similar to respiratory epithelium
• recto-vaginal septum is absent, resulting in common cloacal opening
• E18 fetuses exhibit a well-developed columnar epithelium in the proximal stomach rather than a mature squamous epithelium as in wild-type fetuses and exhibit markers of Barrett's esophagus
• E18 fetuses exhibit epithelial metaplasia in the proximal stomach
• between E13 and E18, the proximal stomach epithelium undergoes a transition to a Barrett's-like metaplasia
• origin of the metaplasia is traced to a monolayer of Car4+cells that lie on the basement membrane of the proximal stomach and the Car4+ primitive epithelium of the stomach develops into a metaplasia after E14 because of the absence of an undermining population of squamous epithelium from the esophagus
• mutants develop Barrett's-like metaplasia; origin of metaplasia is the primitive junctional epithelial cells of the squamocolumnar junction

endocrine/exocrine glands
• no prostatic ducts or epithelial budding structures are detected in the ventral or dorsolateral region of the periurethral mesenchyma, unlike in wild-type controls
• newborn males show absence of the prostate

renal/urinary system
• mutants develop a bladder mucosa epithelial layer but fail to complete uroepithelial differentiation, producing a nontransitional default cuboidal epithelium
• mutants do not form the umbrella cells that make up the apical cell layer of the bladder epithelium
• mutants do not complete uroepithelial differentiation and thus do not develop the transitional epithelium but rather a nontransitional cuboidal epithelium
• absent in some regions
• thinner than normal

reproductive system
• no prostatic ducts or epithelial budding structures are detected in the ventral or dorsolateral region of the periurethral mesenchyma, unlike in wild-type controls
• newborn males show absence of the prostate
• caudal structures are hypoplastic, with reduction in supporting connective tissue
• stratified squamous epithelium is absent on external genitalia, introitus, and vagina
• uterine Mullerian epithelium is contiguous with vaginal mucosa composed of urogenital and cloacal epithelia
• recto-vaginal septum is absent, resulting in common cloacal opening
• embryos demonstrate clitoral hypoplasia, due to absence of mature erectile tissue and overlying skin
• similar transfiguration as in stomach epithelium is observed
• similar transfiguration as in stomach epithelium is observed

vision/eye
• mutants have no eyelids at P1

cellular
• in the nasal epithelial at E11.5
• cells in remaining patches of epithelium on dermis have highly pyknotic nuclei, indicative of apoptosis

growth/size/body
• secondary palate is truncated
• stratified squamous epithelium is replaced by 1-2 layers of cuboidal epithelial cells

integument
• hair shafts are absent at P1
• no pelage follicles are present at P1
• stratified epidermis is absent, and basal, suprabasal and cornifed layer structures are lacking in mutants; late stage embryos and neonates retain isolated patches of disorganized epithelial cells along exposed dermis (J:54637)


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
11/29/2016
MGI 6.06
The Jackson Laboratory