Phenotypes Associated with This Genotype

Genotype
MGI:5618862

• Allelic Composition: Dock1^b2b3190Clo/Dock1^b2b3190Clo
• Genetic Background: C57BL/6J-Dock1^b2b3190Clo

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

Mutant (E17.5) exhibits malaligned outflow tracts with hypoplastic pulmonary artery (PA) which was diagnosed by ECM histopathology as double outlet right ventricle (DORV) of Tetralogoy of Fallot subtype.

cardiovascular system

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

pulmonary valve atresia ( J:175213 )

craniofacial

micrognathia ( J:175213 )

short snout ( J:175213 )

skeleton

micrognathia ( J:175213 )

renal/urinary system

hydronephrosis ( J:175213 )

homeostasis/metabolism

hydrops fetalis ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

growth/size/body

short snout ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:175213
tetralogy of Fallot		DOID:6419	OMIM:187500	J:175213