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Phenotypes Associated with This Genotype
Genotype
MGI:5447056
Allelic
Composition
Kat6atm1Avo/Kat6a+
Tbx1tm1Bld/Tbx1+
Genetic
Background
involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kat6atm1Avo mutation (0 available); any Kat6a mutation (35 available)
Tbx1tm1Bld mutation (1 available); any Tbx1 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 80% of expected mice die before weaning

cardiovascular system
• more mice exhibit DiGeorge-like symptoms compared with single heterozygotes

craniofacial
• more mice exhibit DiGeorge-like symptoms compared with single heterozygotes

skeleton
• more mice exhibit DiGeorge-like symptoms compared with single heterozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
DiGeorge syndrome DOID:11198 OMIM:188400
J:188772


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