Analysis Tools
mortality/aging
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• a significant portion of mice died either immediately after or within days of birth, though some survive to weaning, most died shortly after birth due to neural tube defects and/or cleft secondary palate
• some pups exhibited anencephaly and either died or were cannibalized immediately after birth
• ~50% of mice, had a normal outward appearance, but died within the first day due to respiratory distress related to cleft secondary palate
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pigmentation
belly spot
(
J:88826
)
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• observed on mice that survived to weaning
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• white paws observed on mice that survived to weaning
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• white bands observed on mice that survived to weaning
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behavior/neurological
| N |
• in spite of perturbed hearing, mice showed normal locomotive behavior
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• mice did not startle when subjected to loud noise
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cardiovascular system
| N |
• no defect detected in the heart outflow tract
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cellular
| N |
• the amount of observed neural crest cell apoptosis did not exceed that which was observed in wild-type controls, in contrast to the extensive apoptosis observed in neural crest cells of Tcfap2a null mice
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craniofacial
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• abnormal frontonasal suture lacking the degree of interdigitation observed in wild-type
• other cranial sutures appeared normal
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• while defects were not apparent in the skulls of newborns that did not exhibit anencephaly, craniofacial bone dysmorphologies arose with age
• while the upper jaw of affected mutants showed abnormal development, the morphology of the lower jaw was largely normal
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• broader than those of wild-type
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• shorter than those of wild-type
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small orbits
(
J:88826
)
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• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head
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malocclusion
(
J:88826
)
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• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout
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short maxilla
(
J:88826
)
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• oblong stalked shape of zygomatic process
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• flatter than controls
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• narrower across the base than the equivalent control bone and did not have a well-defined groove into which the incus normally fits
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• hypomorphic and only occurred as a small peg-shaped bone fragment
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• normal elevation but failed fusion of secondary palate
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• snout shortening led to defects in skin integrity around the eyes and face that required euthanasia by ~2 months of age
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• snout shortening led to defects in skin integrity around the eyes
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short snout
(
J:88826
)
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• observed in mice that survived to weaning
• becoming more severe with age, eventually leading defects in skin integrity around the eyes and face
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growth/size/body
malocclusion
(
J:88826
)
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• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout
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• normal elevation but failed fusion of secondary palate
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• snout shortening led to defects in skin integrity around the eyes and face that required euthanasia by ~2 months of age
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• snout shortening led to defects in skin integrity around the eyes
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short snout
(
J:88826
)
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• observed in mice that survived to weaning
• becoming more severe with age, eventually leading defects in skin integrity around the eyes and face
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• while the weight of mice did not differ from that of wild-type at birth, those that survived to weaning weighed 26% less than controls
• failure to thrive, at least in part, is attributed to abnormal craniofacial development and consequent feeding impairment
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hearing/vestibular/ear
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• flatter than controls
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• narrower across the base than the equivalent control bone and did not have a well-defined groove into which the incus normally fits
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• hypomorphic and only occurred as a small peg-shaped bone fragment
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limbs/digits/tail
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• white bands observed on mice that survived to weaning
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respiratory system
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• ~50% of mice developed respiratory distress and died within 1 day of birth
• associated with cleft secondary palate
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skeleton
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• abnormal frontonasal suture lacking the degree of interdigitation observed in wild-type
• other cranial sutures appeared normal
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• while defects were not apparent in the skulls of newborns that did not exhibit anencephaly, craniofacial bone dysmorphologies arose with age
• while the upper jaw of affected mutants showed abnormal development, the morphology of the lower jaw was largely normal
|
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• broader than those of wild-type
|
|
• shorter than those of wild-type
|
small orbits
(
J:88826
)
|
• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head
|
malocclusion
(
J:88826
)
|
• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout
|
short maxilla
(
J:88826
)
|
• oblong stalked shape of zygomatic process
|
|
• flatter than controls
|
|
• narrower across the base than the equivalent control bone and did not have a well-defined groove into which the incus normally fits
|
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• hypomorphic and only occurred as a small peg-shaped bone fragment
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nervous system
| N |
• no defect detected in the cranial ganglia, in contrast to the extensive hypoplasia observed in Tcfap2a null mice
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• occasional embryos exhibited severe neural tube defects affecting the entire cranial region - similar to what is observed in Tcfap2a null mice
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• confined to the cranial neural tube and not observed affecting the trunk neural tube
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anencephaly
(
J:88826
)
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• incomplete penetrance, observed in 15-20% of mice leading to death immediately after birth
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exencephaly
(
J:88826
)
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• incomplete penetrance, observed in ~15% of mice
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digestive/alimentary system
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• normal elevation but failed fusion of secondary palate
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embryo
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• occasional embryos exhibited severe neural tube defects affecting the entire cranial region - similar to what is observed in Tcfap2a null mice
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• confined to the cranial neural tube and not observed affecting the trunk neural tube
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vision/eye
small orbits
(
J:88826
)
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• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head
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integument
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• snout shortening led to defects in skin integrity around the eyes and face that required euthanasia by ~2 months of age
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• snout shortening led to defects in skin integrity around the eyes
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belly spot
(
J:88826
)
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• observed on mice that survived to weaning
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• white paws observed on mice that survived to weaning
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• white bands observed on mice that survived to weaning
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