Analysis Tools
mortality/aging
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• Background Sensitivity: on background involving C57BL/6 in addition to 129, most mice die within 3 days of birth and very few live to 3 weeks of age
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craniofacial
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• at P0, mice exhibit chondrocranial (including both neurocranial and splanchnocranial) and dermatocranial defects esp. along the neurocranial midline and in the middle and inner ear, but including all three primary sensory capsules (nasal, optic, and otic)
• midline defects vary in severity, ranging from bilateral cleft of the secondary palate to absence of elaborated premaxillary palatal processes or failure of the maxillary and palatine palatal processes to fuse in the midline
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• at P0, 67% of mice exhibit a large midline basicranial hypophyseal fenestration in the basisphenoid
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• hypoglossal foramen is absent
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• styloid process is typically markedly hypoplastic and separated into tympanohyal and stylohyal portions
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• ala temporali are reduced in size
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• retroarticular processes of the squamosals are dysmorphic
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• at P0, 40% of mice exhibit fusion of the premaxillary incisors; instead of two separate tooth germs located adjacent to the nasal cavity, a fused incisor crown is found below the nasal septum in the midline
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• at P0, 50% of mice exhibit variable premaxilla synostosis across the midline along with a single premaxillary incisor crown within the premaxillae
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• at P0, the premaxillae are hypoplastic
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• malleus lacks a normal neck, manubrium, and processus brevis and is sometimes synchondrotic with the remnant of the incus
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• in some cases, gonial bones are absent
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• when present, gonial bones are hypoplastic
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• stapes is not entirely normal and is occasionally synchondrotic with the otic capsule
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• nasal capsular cartilages show midline defects, including absence of elaborated paraseptal cartilages
• however, the external nares are patent
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• BrdU analysis of E13.5 palatal shelves showed significantly reduced cell proliferation rates in the palate mesenchyme of the middle and posterior apex and bend
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• at E13.5, palatal shelves show reduced Ptc1 expression that fails to extend along their length and is lost in the palatal bend mesenchyme
• BrdU analysis of E13.5 palatal shelves showed significantly reduced cell proliferation rates in the palate epithelium of the middle and posterior apex and in the palate mesenchyme of the middle and posterior apex and bend
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• although palatal shelves elevate above the tongue and orient into a horizontal position, they fail to contact each other and fuse in the midline at E15.5
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• at P0, 30% of mice exhibit complete secondary cleft palate while an additional 30% show partial secondary cleft palate
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• at E12.5, the vomeronasal organ surrounded by the early paraseptal cartilage fails to develop
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• at P0, the external auditory meatus is hypoplastic or nearly absent
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vision/eye
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• eye abnormalities apparent as early as E11.5 and persistent through E12.5 and E14.5
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• fails to form ventrally
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• iris fails to form ventrally
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• smaller, thicker
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small lens
(
J:70735
)
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• lens either small or absent
• detached from ventral neuroepithelium
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• eyes tilted ventrally
(J:70735)
• after day 5, structures of the eye are difficult to distinguish
(J:70735)
• at P0, the ala hypochiasmatica and associated optic pillars of the optic capsules are missing
(J:122159)
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• eyelids much closer together
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• little or no retinal pigment epithelium
• ventral retinal pigment layer shows increased cell proliferation around E10.5 and takes on characteristics of the neuroretina
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• disorganized neural retina
• ventral neural retina curves outward to become multilayered
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• minimal ganglion layer persists through E18.5
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• no vitreous humour
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digestive/alimentary system
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• BrdU analysis of E13.5 palatal shelves showed significantly reduced cell proliferation rates in the palate mesenchyme of the middle and posterior apex and bend
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• at E13.5, palatal shelves show reduced Ptc1 expression that fails to extend along their length and is lost in the palatal bend mesenchyme
• BrdU analysis of E13.5 palatal shelves showed significantly reduced cell proliferation rates in the palate epithelium of the middle and posterior apex and in the palate mesenchyme of the middle and posterior apex and bend
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• although palatal shelves elevate above the tongue and orient into a horizontal position, they fail to contact each other and fuse in the midline at E15.5
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• at P0, 30% of mice exhibit complete secondary cleft palate while an additional 30% show partial secondary cleft palate
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pigmentation
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• little or no retinal pigment epithelium
• ventral retinal pigment layer shows increased cell proliferation around E10.5 and takes on characteristics of the neuroretina
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growth/size/body
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• at P0, 40% of mice exhibit fusion of the premaxillary incisors; instead of two separate tooth germs located adjacent to the nasal cavity, a fused incisor crown is found below the nasal septum in the midline
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• nasal capsular cartilages show midline defects, including absence of elaborated paraseptal cartilages
• however, the external nares are patent
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• BrdU analysis of E13.5 palatal shelves showed significantly reduced cell proliferation rates in the palate mesenchyme of the middle and posterior apex and bend
|
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• at E13.5, palatal shelves show reduced Ptc1 expression that fails to extend along their length and is lost in the palatal bend mesenchyme
• BrdU analysis of E13.5 palatal shelves showed significantly reduced cell proliferation rates in the palate epithelium of the middle and posterior apex and in the palate mesenchyme of the middle and posterior apex and bend
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• although palatal shelves elevate above the tongue and orient into a horizontal position, they fail to contact each other and fuse in the midline at E15.5
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• at P0, 30% of mice exhibit complete secondary cleft palate while an additional 30% show partial secondary cleft palate
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• at E12.5, the vomeronasal organ surrounded by the early paraseptal cartilage fails to develop
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• at P0, the external auditory meatus is hypoplastic or nearly absent
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hearing/vestibular/ear
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• malleus lacks a normal neck, manubrium, and processus brevis and is sometimes synchondrotic with the remnant of the incus
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• in some cases, gonial bones are absent
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• when present, gonial bones are hypoplastic
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• stapes is not entirely normal and is occasionally synchondrotic with the otic capsule
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• at P0, the external auditory meatus is hypoplastic or nearly absent
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• otic capsule is dysmorphic
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• tegmen tympani is dysmorphic
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• at P0, tympanic rings show variable size and shape, but are usually much smaller in diameter and thicker
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nervous system
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• at E12.5, the vomeronasal organ surrounded by the early paraseptal cartilage fails to develop
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• mice show microform holoprosencephaly, including midfacial hypoplasia, premaxillary incisor fusion, and cleft palate as well severe ear defects
• however, the forebrain remains grossly intact
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respiratory system
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• nasal capsular cartilages show midline defects, including absence of elaborated paraseptal cartilages
• however, the external nares are patent
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• at E12.5, the vomeronasal organ surrounded by the early paraseptal cartilage fails to develop
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skeleton
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• at P0, mice exhibit chondrocranial (including both neurocranial and splanchnocranial) and dermatocranial defects esp. along the neurocranial midline and in the middle and inner ear, but including all three primary sensory capsules (nasal, optic, and otic)
• midline defects vary in severity, ranging from bilateral cleft of the secondary palate to absence of elaborated premaxillary palatal processes or failure of the maxillary and palatine palatal processes to fuse in the midline
|
|
• at P0, 67% of mice exhibit a large midline basicranial hypophyseal fenestration in the basisphenoid
|
|
• hypoglossal foramen is absent
|
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• styloid process is typically markedly hypoplastic and separated into tympanohyal and stylohyal portions
|
|
• ala temporali are reduced in size
|
|
• retroarticular processes of the squamosals are dysmorphic
|
|
• at P0, 40% of mice exhibit fusion of the premaxillary incisors; instead of two separate tooth germs located adjacent to the nasal cavity, a fused incisor crown is found below the nasal septum in the midline
|
|
• at P0, 50% of mice exhibit variable premaxilla synostosis across the midline along with a single premaxillary incisor crown within the premaxillae
|
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• at P0, the premaxillae are hypoplastic
|
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• malleus lacks a normal neck, manubrium, and processus brevis and is sometimes synchondrotic with the remnant of the incus
|
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• in some cases, gonial bones are absent
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• when present, gonial bones are hypoplastic
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• stapes is not entirely normal and is occasionally synchondrotic with the otic capsule
|
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• nasal capsular cartilages show midline defects, including absence of elaborated paraseptal cartilages
• however, the external nares are patent
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• malleus is sometimes synchondrotic with the remnant of the incus
• a process extending from either the incus or the malleus portion of the fused elements is often synchondrotically fused with the stapes
• stapes is occasionally synchondrotic with the otic capsule
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synostosis
(
J:122159
)
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• at P0, 50% of mice exhibit variable premaxilla synostosis across the midline
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