Phenotypes Associated with This Genotype

Genotype
MGI:5447056

• Allelic Composition: Kat6a^tm1Avo/Kat6a⁺; Tbx1^tm1Bld/Tbx1⁺
• Genetic Background: involves: 129 * 129S7/SvEvBrd * BALB/c * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

preweaning lethality, incomplete penetrance ( J:188772 )

• 80% of expected mice die before weaning

cardiovascular system

abnormal cardiovascular system morphology ( J:188772 )

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

craniofacial

abnormal craniofacial morphology ( J:188772 )

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

skeleton

abnormal skeleton morphology ( J:188772 )

• 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