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Phenotypes Associated with This Genotype
Genotype
MGI:3046805
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 (21 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (36 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (36 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal pharyngeal 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
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 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
abnormal pharyngeal 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
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 Tbx1tm1Bld 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory