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 Euro Europhenome
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:91013 )
• 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 Euro Europhenome
N normal phenotype
cardiovascular system
abnormal aortic arch morphology ( J:91013 )
• 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 Euro Europhenome
N normal phenotype
cardiovascular system
abnormal aortic arch morphology ( J:91013 )
• 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 Euro Europhenome
N normal phenotype
cardiovascular system
abnormal branchial arch artery morphology ( 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
abnormal fourth branchial arch artery morphology ( J:91013 )
• the 4th pharyngeal arch artery is absent or hypoplastic
persistent truncus arteriosis ( J:91013 )
• the same cardiovascular phenotype as in Tbx1tm1Bld 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 Tbx1tm1Bld homozygotes (J:91013)
abnormal branchial arch artery morphology ( 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
abnormal fourth branchial arch artery morphology ( 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

embryogenesis
abnormal branchial arch artery morphology ( 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
abnormal fourth branchial arch artery morphology ( 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

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 Euro Europhenome
N normal phenotype
cardiovascular system
persistent truncus arteriosis ( J:110620 )
• 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 Euro Europhenome
N normal phenotype
cardiovascular system
abnormal aortic arch morphology ( J:112457 )
• 100% show aortic arch defects
persistent truncus arteriosis ( J:112457 )
• 100% penetrance
abnormal interventricular septum morphology ( J:112457 )
• 100% penetrance of ventricular septal defect

embryogenesis
abnormal neural crest cell migration ( J:112457 )
• 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
absent branchial arches ( J:112457 )
• exhibit loss of the 3rd, 4th, and 6th pharyngeal arches at E10.5
branchial arch hypoplasia ( J:112457 )
• exhibit hypoplasia of the 2nd pharyngeal arches at E10.5
abnormal branchial pouch morphology ( J:112457 )
• the 4th pouch is smaller
abnormal mesenchyme morphology ( J:112457 )
• exhibit reduced proliferation of mesenchymal cells at E8.5

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

craniofacial
craniofacial phenotype ( J:112457 )
N
• do not exhibit cleft palate (J:112457)
absent branchial arches ( J:112457 )
• exhibit loss of the 3rd, 4th, and 6th pharyngeal arches at E10.5
branchial arch hypoplasia ( J:112457 )
• exhibit hypoplasia of the 2nd pharyngeal arches 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 neural crest cell migration ( J:112457 )
• 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 Euro Europhenome
N normal phenotype
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


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 Euro Europhenome
N normal phenotype
mortality/aging
complete postnatal lethality ( 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
ascites ( J:159824 )
• between P2 and P4, mice exhibit abdominal chylous ascites unlike wild-type mice
dehydration ( J:159824 )
• between P2 and P4

growth/size