Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2atm1Hsv mutation
(1 available);
any
Tfap2a mutation
(39 available)
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cardiovascular system
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• double outlet right ventricle associated with a right dorsal aorta defect in 1 of 10 E14.5-15.5 embryos
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• retroesophageal right subclavian artery (RERSCA) is observed in 1 of 10 E14.5-15.5 embryos
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• 8 out of 10 E14.5-15.5 embryos exhibit double outlet right ventricle (DORV)
• the remaining two E14.5-E15.5 embryos exhibit a more extreme a DORV described as tetralogy of Fallot
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• observed in all embryos studied
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• complete atresia of the proximal pulmonary outflow tract is found in 1 of 10 E15.5 embryos
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• extreme stenosis of the proximal pulmonary outflow tract is found in 1 of 10 E14.5 embryos
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craniofacial
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• highly disorganized craniofacial structures observed in E15.5 embryos
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embryo
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• failure of neural tube closure by E9.5
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growth/size/body
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• failure of ventral body wall closure observed in E15.5 embryos
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nervous system
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• failure of neural tube closure by E9.5
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mortality/aging
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• a significant reduction in number of double-null embryos (5.5% vs 25% expected) compared to 3 other possible genotypic combinations results in earlier lethality than loss of either allele alone (~E7.5)
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embryo
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N |
• double-null embryos are found at ~expected frequencies (~25%) at E3.5; embryos are detected in both the morula (~75%) and blastocyst (~25%) stages, indicating that deficiency of both Tcfap2a and Tcfap2c does not affect the zygote prior to E3.5;
• other genotypic combinations are all found at similar frequencies (~25%) at E7.5, indicating that loss of any combination of 3 of 4 wild-type Tcfap2a and Tcfap2c alleles allows embryo survival to ~E7.5
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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
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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
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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
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N |
• no defect detected in the heart outflow tract
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cellular
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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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• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head
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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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• oblong stalked shape of zygomatic process
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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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• 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
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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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• 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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• 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
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• shorter than those of wild-type
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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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• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout
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• oblong stalked shape of zygomatic process
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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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nervous system
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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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• incomplete penetrance, observed in 15-20% of mice leading to death immediately after birth
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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
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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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• 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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