Analysis Tools
mortality/aging
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• pups are born alive but die soon after birth, most likely due to the cleft palate defect
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growth/size/body
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• at E18.5, the palatal processes of the maxillary bone are malformed
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• at E16.5 and E18.5, midline notching of the upper lip is observed
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• at E16.5, vertical philtrum length in the upper lip is decreased, as measured from frontal view pictures
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cleft palate
(
J:320497
)
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• at E16.5, frontal sections of embryo heads indicate a cleft palate defect
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• at E16.5 and E18.5, the distance between the nostrils is increased, as measured from frontal view pictures
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• at E18.5, a wider nasal bridge is observed with increased distance between the nostrils
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• at E18.5, the nasal bridge appears flattened
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• at E16.5, nasal cartilage formation is disrupted
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short snout
(
J:320497
)
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• at E16.5 and E18.5, snout length is decreased, as measured between the tip of the snout to the distal end of the eye
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• at E10.5, embryos show disruption of frontonasal mesenchyme identity, with loss of expression of Pax7 and concomitant ectopic expression of the jaw mesenchyme regulators Lhx6 and Lhx8 in the caudal region of the lateral nasal processes
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• at E10.5, embryos show reduced expression of ocular developmental regulators Pitx2 and Lmx1b in the periocular mesenchyme
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• at E10.5, TUNEL staining of embryo heads showed increased apoptosis of the periocular mesenchyme cells located dorsally to the optic cup
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craniofacial
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• at E18.5, the presphenoid bone is hypoplastic
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• at E18.5, the palatal processes of the maxillary bone are malformed
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• at E18.5, the premaxilla is hypoplastic
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• at E10.5, the Pax7 expression domain is reduced and disrupted at the caudal third of the lateral nasal process (LNP) adjacent to the maxillary process
• at E10.5, both Lhx6 and Lhx8 mRNAs are found ectopically expressed in the caudal region of the LNP; in contrast, Lhx6 and Lhx8 are strongly expressed in the maxillary and mandibular mesenchyme but absent in the lateral nasal mesenchyme in wild-type embryos
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• at E16.5 and E18.5, midline notching of the upper lip is observed
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• at E16.5, vertical philtrum length in the upper lip is decreased, as measured from frontal view pictures
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cleft palate
(
J:320497
)
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• at E16.5, frontal sections of embryo heads indicate a cleft palate defect
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• at E16.5 and E18.5, the distance between the nostrils is increased, as measured from frontal view pictures
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• at E18.5, a wider nasal bridge is observed with increased distance between the nostrils
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• at E18.5, the nasal bridge appears flattened
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• at E16.5, nasal cartilage formation is disrupted
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short snout
(
J:320497
)
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• at E16.5 and E18.5, snout length is decreased, as measured between the tip of the snout to the distal end of the eye
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embryo
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• at E10.5, embryos show disruption of frontonasal mesenchyme identity, with loss of expression of Pax7 and concomitant ectopic expression of the jaw mesenchyme regulators Lhx6 and Lhx8 in the caudal region of the lateral nasal processes
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• at E10.5, embryos show reduced expression of ocular developmental regulators Pitx2 and Lmx1b in the periocular mesenchyme
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• at E10.5, TUNEL staining of embryo heads showed increased apoptosis of the periocular mesenchyme cells located dorsally to the optic cup
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vision/eye
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• at E10.5, embryos show reduced expression of ocular developmental regulators Pitx2 and Lmx1b in the periocular mesenchyme
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• at E10.5, TUNEL staining of embryo heads showed increased apoptosis of the periocular mesenchyme cells located dorsally to the optic cup
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• at E16.5, the optic cup appears deformed
• at E12.5, the optic cup is abnormally extended along the medial-lateral axis
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• at E16.5, the optic stalk appears deformed
• at E12.5, the optic stalk epithelium remains as an epithelial tube, with a central lumen surrounded by a 4-6-cell thick PAX2+ epithelium, connecting the ventral diencephalon to the optic cup and with the retinal ganglion axons lying outside of the optic stalk
• at E14.5, the PAX2+ optic stalk cells and the retinal ganglion axons remain largely segregated, with the PAX2+ epithelium partly wrapping around the nerve fibers
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• at E16.5, the horizontal diameter of the eyeball is decreased, as measured from lateral view pictures
• however, the distance between the two eyes from frontal view pictures is not significantly altered, indicating lack of true ocular hypertelorism
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• 35 of 50 (70%) of E18.5 fetuses or newborn pups exhibit open eyelid unilaterally
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cellular
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• at E10.5, TUNEL staining of embryo heads showed increased apoptosis of the periocular mesenchyme cells located dorsally to the optic cup
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skeleton
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• at E18.5, the presphenoid bone is hypoplastic
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• at E18.5, the palatal processes of the maxillary bone are malformed
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• at E18.5, the premaxilla is hypoplastic
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• at E16.5, nasal cartilage formation is disrupted
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respiratory system
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• at E16.5 and E18.5, the distance between the nostrils is increased, as measured from frontal view pictures
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• at E18.5, a wider nasal bridge is observed with increased distance between the nostrils
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• at E18.5, the nasal bridge appears flattened
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• at E16.5, nasal cartilage formation is disrupted
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digestive/alimentary system
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• at E18.5, the palatal processes of the maxillary bone are malformed
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cleft palate
(
J:320497
)
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• at E16.5, frontal sections of embryo heads indicate a cleft palate defect
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nervous system
| N |
• no neural tube defects are observed in the C57BL/6N inbred background
• Background Sensitivity: in a hybrid 129S6/SvEvTac x C57BL/6N background, ~10% of embryos harvested from E16.5 to E18.5 exhibit an exencephaly phenotype
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| frontonasal dysplasia 3 | DOID:0081047 |
OMIM:613456 |
J:320497 | |
