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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mau2tm1.1Hpt
targeted mutation 1.1, Heiko Peters
MGI:5638624
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mau2tm1.1Hpt/Mau2tm1.1Hpt involves: 129S2/SvPas * C57BL/6 * SJL MGI:5698664
cn2
Mau2tm1.1Hpt/Mau2tm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL MGI:5698674
cn3
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL MGI:5698685
cn4
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Nipbltm1.1Hpt/Nipbl+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL MGI:5698689


Genotype
MGI:5698664
hm1
Allelic
Composition
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mau2tm1.1Hpt mutation (0 available); any Mau2 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes are viable and fertile and show no overt phenotypic abnormalities




Genotype
MGI:5698674
cn2
Allelic
Composition
Mau2tm1.1Hpt/Mau2tm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL
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 (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• newborn mice display open eyelids

growth/size/body
• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• newborn mice exhibit severe facial hypoplasia
• a mild size reduction of the upper lip is first seen at E13.5
• an up-turned nose is first seen at E13.5
• newborn mice have low-set ears

embryo
• 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
• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

craniofacial
• all neural crest cell-derived skull components are severely affected
• all neural crest cell-derived jaw components are severely affected
• a mild size reduction of the lower jaw is first seen at E13.5
• in newborn mice, the length of the mandible is only 49% of that in wild-type controls, i.e. significantly smaller than that of mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)
• surprisingly, newborn mice exhibit a more pronounced craniofacial phenotype relative to not only mice that are singly homozygous for Nipbltm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth, but also to mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth
• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%
• newborn mice exhibit severe facial hypoplasia
• a mild size reduction of the upper lip is first seen at E13.5
• an up-turned nose is first seen at E13.5
• newborn mice have low-set ears

skeleton
• all neural crest cell-derived skull components are severely affected
• all neural crest cell-derived jaw components are severely affected
• a mild size reduction of the lower jaw is first seen at E13.5
• in newborn mice, the length of the mandible is only 49% of that in wild-type controls, i.e. significantly smaller than that of mice that are double homozygous for both Nipbltm1.1Hpt and Mau2tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

cellular
• 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

hearing/vestibular/ear
• newborn mice have low-set ears




Genotype
MGI:5698685
cn3
Allelic
Composition
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL
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 (35 available)
Nipbltm1.1Hpt mutation (0 available); any Nipbl mutation (124 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• newborn mice display open eyelids

growth/size/body
• newborn mice exhibit severe facial hypoplasia
• newborn mice have low-set ears

craniofacial
• all neural crest cell-derived skull components are severely affected
• all neural crest cell-derived jaw components are severely affected
• 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)
• 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
• newborn mice exhibit severe facial hypoplasia
• newborn mice have low-set ears

skeleton
• all neural crest cell-derived skull components are severely affected
• all neural crest cell-derived jaw components are severely affected
• 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)

hearing/vestibular/ear
• newborn mice have low-set ears




Genotype
MGI:5698689
cn4
Allelic
Composition
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Nipbltm1.1Hpt/Nipbl+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL
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 (35 available)
Nipbltm1.1Hpt mutation (0 available); any Nipbl mutation (124 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 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)

skeleton
• 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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory