mortality/aging
|
• mice are born at normal ratios and are responsive to touch; however, all mice die from asphyxiation caused by upper airway obstruction within an hr of birth
• tracheostomy results in recovery from cyanosis and restoration of viability prior to humane euthanasia
|
homeostasis/metabolism
respiratory system
|
• at P0, the upper airway is constricted/obstructed, unlike in control mice
|
craniofacial
|
• at P0, the angular processes of the mandibles are severely hypoplastic
|
|
• at P0, the condular processes of the mandibles are severely hypoplastic
|
|
• at P0, the coronoid processes of the mandibles are severely hypoplastic
|
|
• at P0, the mandible is markedly shorter
|
|
• neonatal skulls display several defective or missing craniofacial structures
• defects in craniofacial development are observed as early as E13.5
• however, no obvious changes are observed in proliferation or apoptosis at E9.5 or E10.5
|
|
• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification
|
|
• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos
• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5
|
cleft palate
(
J:122483
)
|
• all newborns exhibit a posterior cleft of the palate
|
glossoptosis
(
J:122483
)
|
• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice
|
skeleton
|
• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification
|
|
• at P0, the angular processes of the mandibles are severely hypoplastic
|
|
• at P0, the condular processes of the mandibles are severely hypoplastic
|
|
• at P0, the coronoid processes of the mandibles are severely hypoplastic
|
|
• at P0, the mandible is markedly shorter
|
|
• at E16.5, embryos exhibit a hypoplastic Meckels cartilage and delayed ossification in the mandible and maxilla relative to control mice
|
growth/size/body
|
• all newborns exhibit misshapen heads
|
|
• at P0, the angular processes of the mandibles are severely hypoplastic
|
|
• at P0, the condular processes of the mandibles are severely hypoplastic
|
|
• at P0, the coronoid processes of the mandibles are severely hypoplastic
|
|
• at P0, the mandible is markedly shorter
|
cleft palate
(
J:122483
)
|
• all newborns exhibit a posterior cleft of the palate
|
glossoptosis
(
J:122483
)
|
• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice
|
pigmentation
|
• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development
|
|
• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice
• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice
|
|
• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice
|
|
• mice exhibit significant loss of pigmentation at birth
|
|
• DOPA staining of neonatal skin tissue shows a significant reduction in the number of melanocytes in epidermis and dermis relative to control mice
• in neonatal epidermis, the number of DOPA-stained melanocytes is reduced by 87% relative to control mice
• at E12.5, embryos show only 69% as many Dct-labeled melanocytes in the interlimb region as control embryos
• however, no differences in TUNEL staining or in BrdU incorporation are noted from E11.5 to E18.5
|
|
• newborn mice exhibit a 65% reduction in the number of melanosomes in dermal melanocytes relative to control mice
|
integument
|
• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice
• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice
|
|
• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice
|
|
• mice exhibit significant loss of pigmentation at birth
|
hearing/vestibular/ear
digestive/alimentary system
cleft palate
(
J:122483
)
|
• all newborns exhibit a posterior cleft of the palate
|
glossoptosis
(
J:122483
)
|
• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice
|
cellular
|
• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development
|
embryo
|
• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos
• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5
|
nervous system
| N |
• no obvious defects in peripheral or enteric innervation are detected at birth
|


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