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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbx6tm1Pa
targeted mutation 1, Virginia Papaioannou
MGI:2447721
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbx6tm1Pa/Tbx6tm1Pa involves: 129S1/Sv * 129X1/SvJ MGI:5613022
hm2
Tbx6tm1Pa/Tbx6tm1Pa involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2676973
ht3
Tbx6tm1Pa/Tbx6tm2Pa involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR MGI:3804665
cx4
Sox2tm1.1Knd/Sox2tm1.1Knd
Tbx6tm1Pa/Tbx6tm1Pa
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5613023


Genotype
MGI:5613022
hm1
Allelic
Composition
Tbx6tm1Pa/Tbx6tm1Pa
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx6tm1Pa mutation (1 available); any Tbx6 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• abnormal patterning at E8.5
• ectopic neural tube development at E9.5

nervous system
• ectopic neural tube development at E9.5




Genotype
MGI:2676973
hm2
Allelic
Composition
Tbx6tm1Pa/Tbx6tm1Pa
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx6tm1Pa mutation (1 available); any Tbx6 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by E12.5 all mutant embryos were dead, presumably due to hemorrhaging of embryonic blood vessels

cardiovascular system
• multiple hematomas in the spinal cord and tail buds at E8.5
• extraembryonic vasculature appeared normal
• lack of segmental arteries
• multiple hematomas in the spinal cord and tail buds at E8.5

embryo
• severe defects in the differentiation of paraxial mesoderm
• seen at E8.5
• absence of trunk somites at E8.5
• irregular somites form in the neck region
• posterior paraxial tissue does not form somites, but forms neural tube like structures that flank the axial neural tube
• seen at E8.5
• tail buds examined at E9.5 and E10.5 contained undifferentiated mesenchymal cells and multiple rosettes of epithelializing tissue lateral to the neural tube

nervous system
• seen at E8.5

limbs/digits/tail
• seen at E8.5
• tail buds examined at E9.5 and E10.5 contained undifferentiated mesenchymal cells and multiple rosettes of epithelializing tissue lateral to the neural tube




Genotype
MGI:3804665
ht3
Allelic
Composition
Tbx6tm1Pa/Tbx6tm2Pa
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx6tm1Pa mutation (1 available); any Tbx6 mutation (17 available)
Tbx6tm2Pa mutation (1 available); any Tbx6 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• some cilia are shorter and thicker
• most cilia have terminal bulges or balloon like structures
• direction of turning is completely reversed in 18% (7 of 38) of embryos and partially reversed in an additional 4 embryos
• embryos with reversal of turning direction do not always also have reversal of the direction of heart looping

cardiovascular system
• at E9.5 - E10.5, about 40% of embryos show either completely reversed or ventral rather than horizontal looping

cellular
• some cilia are shorter and thicker
• most cilia have terminal bulges or balloon like structures




Genotype
MGI:5613023
cx4
Allelic
Composition
Sox2tm1.1Knd/Sox2tm1.1Knd
Tbx6tm1Pa/Tbx6tm1Pa
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm1.1Knd mutation (0 available); any Sox2 mutation (56 available)
Tbx6tm1Pa mutation (1 available); any Tbx6 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• absence of genes associated with neural tube development in the paraxial compartment concomitant with absence of tubular structures at E9.5
• expression analysis indicates absence of markers for the paraxial mesoderm, intermediate mesoderm and endoderm
• however, unlike mice homozygous for the Tbx6 mutation alone, no ectopic expression of Sox2 is seen in the neural tube

nervous system
• absence of genes associated with neural tube development in the paraxial compartment concomitant with absence of tubular structures at E9.5
• expression analysis indicates absence of markers for the paraxial mesoderm, intermediate mesoderm and endoderm
• however, unlike mice homozygous for the Tbx6 mutation alone, no ectopic expression of Sox2 is seen in the neural tube





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory