Analysis Tools
mortality/aging
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• mice die within 1 day of birth, from dessication and maternal neglect, secondary to developmental malformations
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embryo
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• recto-vaginal septum is absent, resulting in common cloacal opening
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• from E9-12.5, limb buds are reduced and dysmorphic
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• AER is absent and limb bud has only a simple, single-layered epithelium at distal tip
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• at E9-12.5
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• small, resulting in shortening of tail
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craniofacial
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• mice show dysmorphic craniofacial bone development
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• mice have small, truncated mandibles compared to wild-type
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small maxilla
(
J:54637
)
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• mice have small, truncated maxilla compared to wild-type
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• secondary palate is truncated
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• stratified squamous epithelium is replaced by 1-2 layers of cuboidal epithelial cells
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limbs/digits/tail
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• small, resulting in shortening of tail
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• at E15, homozygotes lack distal components of the forelimb, including the radius, carpals and digits
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absent radius
(
J:54637
)
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• limb truncations due to failure to maintain the apical ectodermal ridge (AER)
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• from E9-12.5, limb buds are reduced and dysmorphic
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• AER is absent and limb bud has only a simple, single-layered epithelium at distal tip
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• at E9-12.5
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absent limbs
(
J:79340
)
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• at E15, homozygotes lack all components of the hindlimb
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skeleton
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• mice have small, truncated mandibles compared to wild-type
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small maxilla
(
J:54637
)
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• mice have small, truncated maxilla compared to wild-type
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absent radius
(
J:54637
)
digestive/alimentary system
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• secondary palate is truncated
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• stratified squamous epithelium is replaced by 1-2 layers of cuboidal epithelial cells
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• there are abundant ciliated and goblet cells that are not seen in wild-type esophageal epithelium
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• esophageal lining shows pseudostratified columnar appearance similar to respiratory epithelium
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• recto-vaginal septum is absent, resulting in common cloacal opening
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• 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
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• 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
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• mutants develop Barrett's-like metaplasia; origin of metaplasia is the primitive junctional epithelial cells of the squamocolumnar junction
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endocrine/exocrine glands
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• no prostatic ducts or epithelial budding structures are detected in the ventral or dorsolateral region of the periurethral mesenchyma, unlike in wild-type controls
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• newborn males show absence of the prostate
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absent ovary
(
J:79340
)
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renal/urinary system
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• 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
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• absent in some regions
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• thinner than normal
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reproductive system
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• no prostatic ducts or epithelial budding structures are detected in the ventral or dorsolateral region of the periurethral mesenchyma, unlike in wild-type controls
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• newborn males show absence of the prostate
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• 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
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• recto-vaginal septum is absent, resulting in common cloacal opening
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absent ovary
(
J:79340
)
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• embryos demonstrate clitoral hypoplasia, due to absence of mature erectile tissue and overlying skin
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• similar transfiguration as in stomach epithelium is observed
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• similar transfiguration as in stomach epithelium is observed
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vision/eye
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• mutants have no eyelids at P1
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cellular
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• in the nasal epithelial at E11.5
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• cells in remaining patches of epithelium on dermis have highly pyknotic nuclei, indicative of apoptosis
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growth/size/body
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• secondary palate is truncated
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• stratified squamous epithelium is replaced by 1-2 layers of cuboidal epithelial cells
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integument
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• hair shafts are absent at P1
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• no pelage follicles are present at P1
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• 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)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | DOID:0060783 |
OMIM:604292 |
J:54637 | |
| gastroesophageal reflux disease | DOID:8534 |
OMIM:109350 |
J:173368 | |
