Phenotypes Associated with This Genotype

Genotype
MGI:5561553

• Allelic Composition: Cplane2^b2b2827Clo/Cplane2^b2b2827Clo
• Genetic Background: C57BL/6J-Cplane2^b2b2827Clo

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

Mutant 2827-004-1 (E16.5) exhibits heterotaxy with dextrocardia, PTA, and hypoplastic lungs

cardiovascular system

persistent truncus arteriosus ( J:175213 )

common atrium ( J:175213 )

dextrocardia ( J:175213 )

superior-inferior ventricles ( J:175213 )

atrioventricular septal defect ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft upper lip ( J:175213 )

digestive/alimentary system

tracheoesophageal fistula ( J:175213 )

growth/size/body

cleft upper lip ( J:175213 )

heterotaxia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

limbs/digits/tail

polydactyly ( J:175213 )

• Preaxial and central polydactyly

respiratory system

tracheoesophageal fistula ( J:175213 )

pulmonary hypoplasia ( J:175213 )

absent trachea ( J:175213 )

skeleton

micrognathia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213