Phenotypes Associated with This Genotype

Genotype
MGI:5618622

• Allelic Composition: Pdgfrb^b2b2903Clo/Pdgfrb^b2b2903Clo
• Genetic Background: C57BL/6J-Pdgfrb^b2b2903Clo

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

This image is from the Laboratory of Dr. Cecilia Lo, a member of the Cardiovascular Development Consortium (CvDC), Bench to Bassinet (B2B) program of the National Heart Lung and Blood Institute (NHLBI), and is displayed with the permission of the authors.

cardiovascular system

abnormal pulmonary artery morphology ( J:175213 )

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

abnormal left subclavian artery morphology ( J:175213 )

double outlet right ventricle ( J:175213 )

overriding aortic valve ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

craniofacial

micrognathia ( J:175213 )

short snout ( J:175213 )

skeleton

micrognathia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

integument

petechiae ( J:175213 )

• petechiae craniofacial defects

growth/size/body

short snout ( J:175213 )

limbs/digits/tail

clinodactyly ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
basal ganglia calcification		DOID:0060230	OMIM:114100 OMIM:213600 OMIM:615007 OMIM:615483	J:175213
infantile myofibromatosis		DOID:0080109	OMIM:228550 OMIM:615293	J:175213
myeloproliferative neoplasm		DOID:2226		J:175213