Phenotypes Associated with This Genotype

Genotype
MGI:5487398

• Allelic Composition: b2b1941Clo/b2b1941Clo
• Genetic Background: C57BL/6J-b2b1941Clo

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

Mutant 1941-003-2 (E15.5) shows persistent truncus arteriosus (PTA) and high aortic arch

cardiovascular system

multiple major aortopulmonary collateral arteries ( J:175213 )

vascular ring ( J:175213 )

persistent truncus arteriosus type iv ( J:175213 )

• Truncus arteriosus type 4a

d-loop transposition of the great arteries ( J:175213 )

atrioventricular septal defect ( J:175213 )

pulmonary valve atresia ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

tracheoesophageal fistula ( J:175213 )

renal/urinary system

hydronephrosis ( J:175213 )

duplex kidney ( J:175213 )

respiratory system

multiple major aortopulmonary collateral arteries ( J:175213 )

tracheoesophageal fistula ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

hematopoietic system

athymia ( J:175213 )

• thymus aplasia

immune system

athymia ( J:175213 )

• thymus aplasia

skeleton

micrognathia ( J:175213 )

endocrine/exocrine glands

athymia ( J:175213 )

• thymus aplasia

growth/size/body

cleft palate ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:175213
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:175213