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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 (14 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (19 available)
Tbx1tm3Bld mutation (1 available); any Tbx1 mutation (19 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 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
• 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
• 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
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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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory