Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nipbltm1.1Hpt mutation
(0 available);
any
Nipbl mutation
(124 available)
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normal phenotype
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• homozygotes are viable and fertile and show no over phenotypic abnormalities
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Nipbltm1.1Hpt mutation
(0 available);
any
Nipbl mutation
(124 available)
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vision/eye
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• newborn mice display open eyelids
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growth/size/body
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• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• however, the number of apoptotic cells is not significantly increased at E12.5
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• newborn mice exhibit severe facial hypoplasia
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• a mild size reduction of the upper lip is first seen at E13.5
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• an up-turned lip is first seen at E13.5
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• an up-turned nose is first seen at E13.5
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• newborn mice have low-set ears
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embryo
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• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively
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• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• however, the number of apoptotic cells is not significantly increased at E12.5
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craniofacial
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• all neural crest cell-derived skull components are severely affected
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• all neural crest cell-derived jaw components are severely affected
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• a mild size reduction of the lower jaw is first seen at E13.5
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• in newborn mice, the length of the mandible is 73% of that in wild-type controls
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• newborn mice exhibit severe defects in craniofacial development
• surprisingly, no gross abnormalities are noted up to E12.5
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• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• however, the number of apoptotic cells is not significantly increased at E12.5
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• newborn mice exhibit severe facial hypoplasia
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• a mild size reduction of the upper lip is first seen at E13.5
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• an up-turned lip is first seen at E13.5
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• an up-turned nose is first seen at E13.5
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• newborn mice have low-set ears
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skeleton
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• all neural crest cell-derived skull components are severely affected
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• all neural crest cell-derived jaw components are severely affected
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• a mild size reduction of the lower jaw is first seen at E13.5
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• in newborn mice, the length of the mandible is 73% of that in wild-type controls
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cellular
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• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively
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hearing/vestibular/ear
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• newborn mice have low-set ears
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Mau2tm1.1Hpt mutation
(0 available);
any
Mau2 mutation
(33 available)
Nipbltm1.1Hpt mutation
(0 available);
any
Nipbl mutation
(124 available)
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vision/eye
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• newborn mice display open eyelids
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growth/size/body
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• newborn mice exhibit severe facial hypoplasia
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• newborn mice have low-set ears
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craniofacial
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• all neural crest cell-derived skull components are severely affected
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• all neural crest cell-derived jaw components are severely affected
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• in newborn mice, the length of the mandible is 68% of that in wild-type controls i.e. significantly larger than that of mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls)
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• surprisingly, newborn mice exhibit a less pronounced craniofacial phenotype relative to mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth
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• newborn mice exhibit severe facial hypoplasia
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• newborn mice have low-set ears
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skeleton
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• all neural crest cell-derived skull components are severely affected
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• all neural crest cell-derived jaw components are severely affected
|
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• in newborn mice, the length of the mandible is 68% of that in wild-type controls i.e. significantly larger than that of mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls)
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hearing/vestibular/ear
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• newborn mice have low-set ears
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|
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Mau2tm1.1Hpt mutation
(0 available);
any
Mau2 mutation
(33 available)
Nipbltm1.1Hpt mutation
(0 available);
any
Nipbl mutation
(124 available)
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craniofacial
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• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)
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skeleton
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• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)
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Analysis Tools
