Mouse Genome Informatics
hm1
    Tbx1tm3Bld/Tbx1tm3Bld
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• homozygous mutants are viable and fertile


Mouse Genome Informatics
cn2
    Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
DiGeorge Syndrome; DGS 188400 J:91013


Mouse Genome Informatics
cn3
    Tbx1tm1Bld/Tbx1tm3Bld
Tg(Myh6-cre)2182Mds/0

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
DiGeorge Syndrome; DGS 188400 J:91013


Mouse Genome Informatics
cn4
    Nkx2-5tm1(cre)Rjs/Nkx2-5+
Tbx1tm1Bld/Tbx1tm3Bld

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:91013)
• 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

embryogenesis
• 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

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


Mouse Genome Informatics
cn5
    Hoxa3tm1(cre)Moon/Hoxa3+
Tbx1tm3Bld/Tbx1tm1Bld

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• at E18.5 embryos are found to display PTA


Mouse Genome Informatics
cn6
    Mesp1tm2(cre)Ysa/Mesp1+
Tbx1tm1Bld/Tbx1tm3Bld

involves: 129S7/SvEvBrd * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• 100% show aortic arch defects
• 100% penetrance
• 100% penetrance of ventricular septal defect

embryogenesis
• the pre-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
• the 4th pouch is smaller
• exhibit reduced proliferation of mesenchymal cells at E8.5

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 (J:112457)
• 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 pre-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


Mouse Genome Informatics
cn7
    Tbx1tm1Bld/Tbx1tm3Bld
Tg(CAG-cre/Esr1*)5Amc/0

involves: 129S7/SvEvBrd * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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


Mouse Genome Informatics
cn8
    Tbx1tm1Bld/Tbx1tm3Bld
Tg(Tek-cre)1Ywa/0

involves: 129S7/SvEvBrd * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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