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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbx1tm3Bld
targeted mutation 3, Antonio Baldini
MGI:3046793
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tbx1tm3Bld/Tbx1tm3Bld involves: 129S7/SvEvBrd * C57BL/6 MGI:3046800
cn2
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0
involves: 129S7/SvEvBrd * C57BL/6 MGI:3046801
cn3
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Myh6-cre)2182Mds/0
involves: 129S7/SvEvBrd * C57BL/6 MGI:3046803
cn4
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld
involves: 129S7/SvEvBrd * C57BL/6 MGI:3046805
cn5
Hoxa3tm1(cre)Moon/Hoxa3+
Tbx1tm3Bld/Tbx1tm1Bld
involves: 129S7/SvEvBrd * C57BL/6 MGI:3641322
cn6
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm3Bld
involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:3686776
cn7
Tbx1tm1Bld/Tbx1tm3Bld
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:4453459
cn8
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL MGI:4453460


Genotype
MGI:3046800
hm1
Allelic
Composition
Tbx1tm3Bld/Tbx1tm3Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygous mutants are viable and fertile




Genotype
MGI:3046801
cn2
Allelic
Composition
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
Tg(Tek-cre)1Ywa mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E18.5 only those aortic arch abnormalities present in Tbx1tm1Bld heterozygotes are seen

Mouse Models of Human Disease
OMIM ID Ref(s)
DiGeorge Syndrome; DGS 188400 J:91013




Genotype
MGI:3046803
cn3
Allelic
Composition
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Myh6-cre)2182Mds/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
Tg(Myh6-cre)2182Mds mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E18.5 only those aortic arch abnormalities present in Tbx1tm1Bld heterozygotes are seen

Mouse Models of Human Disease
OMIM ID Ref(s)
DiGeorge Syndrome; DGS 188400 J:91013




Genotype
MGI:3046805
cn4
Allelic
Composition
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (7 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic
• the same cardiovascular phenotype as in Tbx1tm1Bld homozygotes is seen including truncus arteriosus

cellular
• the mitotic index in the secondary heart field and adjacent splanchnic mesoderm is reduced by 18% and 19%, respectively

craniofacial
N
• none of the mutants had cleft palates at E18.5 unlike Tbx1tm1Bld homozygotes
• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic

immune system
• the thymus is present but smaller than normal with widely separated lobes

embryo
• the aortic arch abnormalities are milder than those present in Tbx1tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic
• the 4th pharyngeal arch artery is absent or hypoplastic

hematopoietic system
• the thymus is present but smaller than normal with widely separated lobes

endocrine/exocrine glands
• the thymus is present but smaller than normal with widely separated lobes

Mouse Models of Human Disease
OMIM ID Ref(s)
DiGeorge Syndrome; DGS 188400 J:91013




Genotype
MGI:3641322
cn5
Allelic
Composition
Hoxa3tm1(cre)Moon/Hoxa3+
Tbx1tm3Bld/Tbx1tm1Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa3tm1(cre)Moon mutation (2 available); any Hoxa3 mutation (16 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E18.5 embryos are found to display PTA




Genotype
MGI:3686776
cn6
Allelic
Composition
Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm3Bld
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mesp1tm2(cre)Ysa mutation (2 available); any Mesp1 mutation (11 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 100% show aortic arch defects
• 100% penetrance
• 100% penetrance of ventricular septal defect

embryo
• the post-otic stream directed to the 3rd pharyngeal arch is interrupted and the circumpharyngeal stream is abnormally distributed
• the pre-otic stream on neural crest cells directed to the 2nd pharyngeal arch is reduced
• exhibit loss of the 3rd, 4th, and 6th pharyngeal arches at E10.5
• exhibit hypoplasia of the 2nd pharyngeal arches at E10.5
• exhibit reduced proliferation of mesenchymal cells at E8.5
• the 4th pouch is smaller

hearing/vestibular/ear
• 100% show hypoplastic external ears

hematopoietic system
• 3 of 15 show thymic hypoplasia
• 12 of 15 show thymic aplasia

nervous system
• terminal projections of the accessory nerve show disarray and are fused with each other
• glossopharyngeal nerve is hypoplastic and the terminal projections show disarray and are fused with each other
• the mandibular branch of the trigeminal nerve is fused caudally with the facial nerve
• terminal projections of the vagus nerve show disarray and are fused with each other

respiratory system

craniofacial
N
• do not exhibit cleft palate
• exhibit loss of the 3rd, 4th, and 6th pharyngeal arches at E10.5
• exhibit hypoplasia of the 2nd pharyngeal arches at E10.5
• 100% show hypoplastic external ears

immune system
• 3 of 15 show thymic hypoplasia
• 12 of 15 show thymic aplasia

cellular
• the post-otic stream directed to the 3rd pharyngeal arch is interrupted and the circumpharyngeal stream is abnormally distributed
• the pre-otic stream on neural crest cells directed to the 2nd pharyngeal arch is reduced

endocrine/exocrine glands
• 3 of 15 show thymic hypoplasia
• 12 of 15 show thymic aplasia

growth/size/body
• 100% show hypoplastic external ears




Genotype
MGI:4453459
cn7
Allelic
Composition
Tbx1tm1Bld/Tbx1tm3Bld
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
Tg(CAG-cre/Esr1*)5Amc mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• at E13.5 and E18.5, mice treated with tamoxifen at E11.5 and E12.5 lack identifiable mesenteric lymphatic vessels unlike in wild-type mice
• however, normal lymphatic vessel development occurs when mice are treated with tamoxifen at E14.5
• at E13.5 and E18.5, mice treated with tamoxifen at E11.5 and E12.5 lack identifiable mesenteric lymphatic vessels unlike in wild-type mice
• however, normal lymphatic vessel development occurs when mice are treated with tamoxifen at E14.5




Genotype
MGI:4453460
cn8
Allelic
Composition
Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (15 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (15 available)
Tg(Tek-cre)1Ywa mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between P2 and P4

immune system
• at E18.5, mice lack mesenteric lymph vessels unlike wild-type mice
• development of gastrointestinal lymphatic vasculature fails unlike in wild-type mice

homeostasis/metabolism
• between P2 and P4, mice exhibit abdominal chylous ascites unlike wild-type mice
• between P2 and P4

growth/size/body





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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory