Phenotypes associated with this allele

• Allele Symbol: Tbx1^tm3Bld
• Allele Name: targeted mutation 3, Antonio Baldini
• Allele ID: MGI:3046793
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx1^tm3Bld/Tbx1^tm3Bld	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046800
cn2	Tbx1^tm1Bld/Tbx1^tm3Bld Tg(Myh6-cre)2182Mds/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046803
cn3	Nkx2-5^tm1(cre)Rjs/Nkx2-5^+ Tbx1^tm1Bld/Tbx1^tm3Bld	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046805
cn4	Hoxa3^tm1(cre)Moon/Hoxa3^+ Tbx1^tm3Bld/Tbx1^tm1Bld	involves: 129S7/SvEvBrd * C57BL/6	MGI:3641322
cn5	Tbx1^tm1Bld/Tbx1^tm3Bld Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046801
cn6	Tbx1^tm1Bld/Tbx1^tm3Bld Tg(CAG-cre/Esr1*)5Amc/0	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:4453459
cn7	Mesp1^tm2(cre)Ysa/Mesp1^+ Tbx1^tm1Bld/Tbx1^tm3Bld	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3686776
cn8	Tbx1^tm1Bld/Tbx1^tm3Bld Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:4453460

Genotype
MGI:3046800

hm1

• Allelic Composition: Tbx1^tm3Bld/Tbx1^tm3Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:91013 )

• homozygous mutants are viable and fertile

Genotype
MGI:3046803

cn2

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm3Bld; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

abnormal aortic arch morphology ( J:91013 )

• at E18.5 only those aortic arch abnormalities present in Tbx1^tm1Bld heterozygotes are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91013

Genotype
MGI:3046805

cn3

• Allelic Composition: Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺; Tbx1^tm1Bld/Tbx1^tm3Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:91013 )

• the aortic arch abnormalities are milder than those present in Tbx1^tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic

absent fourth pharyngeal arch artery ( J:91013 )

• the 4th pharyngeal arch artery is absent or hypoplastic

fourth pharyngeal arch artery hypoplasia ( J:91013 )

• the 4th pharyngeal arch artery is absent or hypoplastic

persistent truncus arteriosus ( J:91013 )

• the same cardiovascular phenotype as in Tbx1^tm1Bld homozygotes is seen including truncus arteriosus

cellular

decreased mitotic index ( J:91013 )

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

craniofacial

craniofacial phenotype ( J:91013 )

N • none of the mutants had cleft palates at E18.5 unlike Tbx1^tm1Bld homozygotes

abnormal pharyngeal arch artery morphology ( J:91013 )

• the aortic arch abnormalities are milder than those present in Tbx1^tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic

absent fourth pharyngeal arch artery ( J:91013 )

• the 4th pharyngeal arch artery is absent or hypoplastic

fourth pharyngeal arch artery hypoplasia ( J:91013 )

• the 4th pharyngeal arch artery is absent or hypoplastic

immune system

small thymus ( J:91013 )

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

embryo

abnormal pharyngeal arch artery morphology ( J:91013 )

• the aortic arch abnormalities are milder than those present in Tbx1^tm1Bld homozygotes as the 3rd and 6th pharyngeal arch artery form and develop normally while the 4th pharyngeal arch artery is absent or hypoplastic

absent fourth pharyngeal arch artery ( J:91013 )

• the 4th pharyngeal arch artery is absent or hypoplastic

fourth pharyngeal arch artery hypoplasia ( J:91013 )

• the 4th pharyngeal arch artery is absent or hypoplastic

hematopoietic system

small thymus ( J:91013 )

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

endocrine/exocrine glands

small thymus ( J:91013 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91013

Genotype
MGI:3641322

cn4

• Allelic Composition: Hoxa3^tm1(cre)Moon/Hoxa3⁺; Tbx1^tm3Bld/Tbx1^tm1Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

persistent truncus arteriosus ( J:110620 )

• at E18.5 embryos are found to display PTA

Genotype
MGI:3046801

cn5

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm3Bld; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

abnormal aortic arch morphology ( J:91013 )

• at E18.5 only those aortic arch abnormalities present in Tbx1^tm1Bld heterozygotes are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91013

Genotype
MGI:4453459

cn6

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm3Bld; Tg(CAG-cre/Esr1*)5Amc/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

immune system

abnormal lymphatic vessel morphology ( J:159824 )

• 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

abnormal lymphangiogenesis ( J:159824 )

• 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:3686776

cn7

• Allelic Composition: Mesp1^tm2(cre)Ysa/Mesp1⁺; Tbx1^tm1Bld/Tbx1^tm3Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:112457 )

absent fourth pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent sixth pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent third pharyngeal arch artery ( J:112457 )

• absent at E10.5

abnormal aortic arch morphology ( J:112457 )

• 100% show aortic arch defects

abnormal cardiac outflow tract development ( J:112457 )

persistent truncus arteriosus ( J:112457 )

• 100% penetrance

abnormal interventricular septum morphology ( J:112457 )

• 100% penetrance of ventricular septal defect

embryo

abnormal cardiac neural crest cell migration ( J:112457 )

• the post-otic stream directed to the 3rd pharyngeal arch is interrupted and the circumpharyngeal stream is abnormally distributed

abnormal cranial neural crest cell migration ( J:112457 )

• the pre-otic stream on neural crest cells directed to the 2nd pharyngeal arch is reduced

abnormal pharyngeal arch morphology ( J:112457 )

abnormal pharyngeal arch artery morphology ( J:112457 )

absent fourth pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent sixth pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent third pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent fourth pharyngeal arch ( J:112457 )

• exhibit loss of the 4th pharyngeal arch at E10.5

second pharyngeal arch hypoplasia ( J:112457 )

• exhibit hypoplasia of the 2nd pharyngeal arch at E10.5

absent sixth pharyngeal arch ( J:112457 )

• exhibit loss of the 6th pharyngeal arch at E10.5

absent third pharyngeal arch ( J:112457 )

• exhibit loss of the 3rd pharyngeal arch at E10.5

abnormal mesenchyme morphology ( J:112457 )

• exhibit reduced proliferation of mesenchymal cells at E8.5

abnormal fourth pharyngeal pouch morphology ( J:112457 )

• the 4th pouch is smaller

hearing/vestibular/ear

ear lobe hypoplasia ( J:112457 )

• 100% show hypoplastic external ears

hematopoietic system

thymus hypoplasia ( J:112457 )

• 3 of 15 show thymic hypoplasia

athymia ( J:112457 )

• 12 of 15 show thymic aplasia

nervous system

abnormal accessory nerve morphology ( J:112457 )

• terminal projections of the accessory nerve show disarray and are fused with each other

glossopharyngeal nerve hypoplasia ( J:112457 )

• glossopharyngeal nerve is hypoplastic and the terminal projections show disarray and are fused with each other

abnormal mandibular nerve branching ( J:112457 )

• the mandibular branch of the trigeminal nerve is fused caudally with the facial nerve

abnormal vagus nerve morphology ( J:112457 )

• terminal projections of the vagus nerve show disarray and are fused with each other

respiratory system

pharynx hypoplasia ( J:112457 )

• severe

craniofacial

craniofacial phenotype ( J:112457 )

N • do not exhibit cleft palate

abnormal pharyngeal arch morphology ( J:112457 )

abnormal pharyngeal arch artery morphology ( J:112457 )

absent fourth pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent sixth pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent third pharyngeal arch artery ( J:112457 )

• absent at E10.5

absent fourth pharyngeal arch ( J:112457 )

• exhibit loss of the 4th pharyngeal arch at E10.5

second pharyngeal arch hypoplasia ( J:112457 )

• exhibit hypoplasia of the 2nd pharyngeal arch at E10.5

absent sixth pharyngeal arch ( J:112457 )

• exhibit loss of the 6th pharyngeal arch at E10.5

absent third pharyngeal arch ( J:112457 )

• exhibit loss of the 3rd pharyngeal arch at E10.5

ear lobe hypoplasia ( J:112457 )

• 100% show hypoplastic external ears

immune system

thymus hypoplasia ( J:112457 )

• 3 of 15 show thymic hypoplasia

athymia ( J:112457 )

• 12 of 15 show thymic aplasia

cellular

abnormal cardiac neural crest cell migration ( J:112457 )

• the post-otic stream directed to the 3rd pharyngeal arch is interrupted and the circumpharyngeal stream is abnormally distributed

abnormal cranial neural crest cell migration ( J:112457 )

• the pre-otic stream on neural crest cells directed to the 2nd pharyngeal arch is reduced

endocrine/exocrine glands

thymus hypoplasia ( J:112457 )

• 3 of 15 show thymic hypoplasia

athymia ( J:112457 )

• 12 of 15 show thymic aplasia

growth/size/body

ear lobe hypoplasia ( J:112457 )

• 100% show hypoplastic external ears

Genotype
MGI:4453460

cn8

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm3Bld; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:159824 )

• mice die between P2 and P4

immune system

abnormal lymphatic vessel morphology ( J:159824 )

• at E18.5, mice lack mesenteric lymph vessels unlike wild-type mice

abnormal lymphangiogenesis ( J:159824 )

• development of gastrointestinal lymphatic vasculature fails unlike in wild-type mice

homeostasis/metabolism

dehydration ( J:159824 )

• between P2 and P4

chylous ascites ( J:159824 )

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

growth/size/body

postnatal growth retardation ( J:159824 )