Analysis Tools
mortality/aging
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• die at birth due to failure of lung formation
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growth/size/body
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• teeth do not develop normally and fail to progress beyond the bud stage
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cleft palate
(
J:59285
)
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• the whole inner ear is generally cystic in appearance
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respiratory system
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• defective lung development is apparent at E10.5
• E12.5 embryos show a finger of mesenchyme surrounded by a single layer of epithelium which exhibits extensive apoptosis by E14.5
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• at E10.5, primary bronchi are absent due to failure of tracheal bifurcation
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• mice fail to form lungs
(J:59285)
• no lungs present at E18.5
(J:59285)
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limbs/digits/tail
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• E10.5 embryos show the beginning of limb bud initiation but no thickening of the epithelium characteristic of an apical endodermal ridge
• exhibit extensive apoptosis in the presumptive limb bud mesoderm and some in the overlying epithelium
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• tail at E16.5 shows malformed and fused caudal vertebrae
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craniofacial
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• teeth do not develop normally and fail to progress beyond the bud stage
|
domed cranium
(
J:59285
)
cleft palate
(
J:59285
)
endocrine/exocrine glands
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• deficiency in salivary gland formation
|
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• the submandibular salivary gland is entirely absent at E13.5
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• the submandibular salivary gland is severely hypoplastic at E12.5, showing an extremely small initial bud
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• the anterior pituitary is absent, however the infundibular recess and its derivative, the pars nervosa, are present and appear normal
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• at E10.5, Rathke's pouch epithelium exhibits numerous apoptotc cells as shown by TUNEL analysis
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• at E10.5, Rathke's pouch is poorly formed with fewer cell layers forming the walls of the diverticulum and shows widespread apoptosis
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• Rathke's pouch is absent at E14.5
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 |
• embryos transiently develop only mammary bud 4 at E11.5; however, the epithelium of mammary bud 4 undergoes extensive apoptosis at E12.5, and by E13 and E14.5, bud 4 is absent
• at E16.5, no mammary bud development is detected in mutant skin, while five pairs are clearly seen in wild-type controls
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• all placodes (1, 2, 3, 5) except 4 are absent along the mammary line
• when flanks from Fgf10-deficient mice are cultured with FGF10 beads, placode formation is rescued
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• a mammary bud arising from placode 4 forms transiently at E11.5 and is then lost within a day through apoptosis; the other 4 mammary placodes (1, 2, 3, and 5) are absent
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hearing/vestibular/ear
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• the whole inner ear is generally cystic in appearance
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• otic vesicles at E10 and E11 are smaller than controls
• do not observe fusion of the canal plates at E13-14
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• the cochlea is disrupted
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• exhibit rudimentary sensory epithelia
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• semicircular canal formation is abnormal
(J:59285)
• at E13 and E14, do not observe elongation of the semicircular ducts
(J:72516)
|
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• at E18, the cochleovestibular membraneous labyrinth is severely disrupted and is replaced by cystic cavities or chambers that are lined by simple epithelium
|
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• some mutants show failure of endolymphatic duct formation at E10.5
(J:59285)
• about 50% of otocyts between E11 and E14 do not show any signs of initiation of endolymphatic duct formation
(J:72516)
• at E13 and E14, do not observe elongation of the endolymphatic ducts
(J:72516)
|
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• otic capsules are greatly reduced in size
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vision/eye
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• eyes are open due to an apparent absence of eyelids
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digestive/alimentary system
cleft palate
(
J:59285
)
|
• development of the cecum is altered, such that a cecal bud forms but is much smaller at E12.5 and the epithelial layer does not invade the mesenchymal layer
• at E13.5, ceca show mesenchymal buds that fail to continue development and show no progressive elongation of the structure
|
cecal atresia
(
J:92361
)
|
• 100% show cecal atresia with absence of epithelial and smooth muscular layers
|
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• anorectal malformation characterized by an absence of rectum in the pelvis, anorectal discontinuity, shortened perineal body and perineal hypospodias
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absent rectum
(
J:92361
)
|
• absence of rectum in the pelvis
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• shortened perineal body and perineal hypospodias
|
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• deficiency in salivary gland formation
|
|
• the submandibular salivary gland is entirely absent at E13.5
|
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• the submandibular salivary gland is severely hypoplastic at E12.5, showing an extremely small initial bud
|
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• stomach exhibits some differences in tissue architecture compared to controls
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small stomach
(
J:59285
)
nervous system
|
• the anterior pituitary is absent, however the infundibular recess and its derivative, the pars nervosa, are present and appear normal
|
|
• at E10.5, Rathke's pouch epithelium exhibits numerous apoptotc cells as shown by TUNEL analysis
|
|
• at E10.5, Rathke's pouch is poorly formed with fewer cell layers forming the walls of the diverticulum and shows widespread apoptosis
|
|
• Rathke's pouch is absent at E14.5
|
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• although initial delamination and migration of neuronal precursors is seen at E10, this process and the formation of the cochleovestibular ganglion is severely retarded at E11
• large number of cochleovestibular neurons are undergoing apoptosis at E13
• neurons of the rudimentary cochleovestibular ganglion eminate fibers toward the periphery but the neurites do not penetrate the otic epithelium
|
skeleton
|
• teeth do not develop normally and fail to progress beyond the bud stage
|
domed cranium
(
J:59285
)
|
• tail at E16.5 shows malformed and fused caudal vertebrae
|
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• the clavicle is fused to the coracoid process
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small scapula
(
J:59285
)
|
• the scapula, particularly the blade and coracoid process, is greatly reduced in size and the acromion fails to form
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• the pelvic girdle is severely malformed
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• exhibit only a rudimentary ileum
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• exhibit only a rudimentary ischium and absent ischial rami
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absent pubis
(
J:59285
)
|
• absent pubis
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• premature suture between the parietal and squamous temporal bones
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pigmentation
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• skin is lighter in color
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reproductive system
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• shortened perineal body and perineal hypospodias
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renal/urinary system
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• perineal hypospadias
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integument
|
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• embryos transiently develop only mammary bud 4 at E11.5; however, the epithelium of mammary bud 4 undergoes extensive apoptosis at E12.5, and by E13 and E14.5, bud 4 is absent
• at E16.5, no mammary bud development is detected in mutant skin, while five pairs are clearly seen in wild-type controls
|
|
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• all placodes (1, 2, 3, 5) except 4 are absent along the mammary line
• when flanks from Fgf10-deficient mice are cultured with FGF10 beads, placode formation is rescued
|
|
|
• a mammary bud arising from placode 4 forms transiently at E11.5 and is then lost within a day through apoptosis; the other 4 mammary placodes (1, 2, 3, and 5) are absent
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• show no discernible panniculus carnosus muscle layer that normally lies beneath the dermis
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• the different stratified layers of the dermis are thinner and appear less well organized
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• the basal keratinocyte layer between the hair follicles is particularly thin
(J:59285)
• exhibit a decrease in the number of cycling cells in the basal layer, however the outer hair follicle sheath appears normal
(J:59285)
• in E11.5-11.75 embryos, cells of the stratum germinativum are cuboidal rather than cylindrical and formation of the periderm is impaired
(J:109476)
|
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• the different stratified layers of the epidermis are thinner and appear less well organized, however epidermal differentiation appears normal
|
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• skin is lighter in color
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muscle
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• show no discernible panniculus carnosus muscle layer that normally lies beneath the dermis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| intestinal atresia | DOID:10486 | J:92361 | ||
