Phenotypes Associated with This Genotype

Genotype
MGI:5616148

• Allelic Composition: Cplane2^b2b2804Clo/Cplane2^b2b2804Clo
• Genetic Background: C57BL/6J-Cplane2^b2b2804Clo

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

Mutant (E14.5) shows persistent truncus arteriosus (PTA), and dual inferior vena cava (IVC), which was confirmed by ECM imaging.

cardiovascular system

abnormal pulmonary artery morphology ( J:175213 )

• abnormal pulmonary artery branching

abnormal inferior vena cava morphology ( J:175213 )

• duplicated inferior vena cava (IVC)

persistent truncus arteriosus ( J:175213 )

common atrium ( J:175213 )

atrioventricular septal defect ( J:175213 )

limbs/digits/tail

abnormal autopod morphology ( J:175213 )

polydactyly ( J:175213 )

• central polydactyly

preaxial polydactyly ( J:175213 )

• Preaxial digit duplication

craniofacial

micrognathia ( J:175213 )

skeleton

micrognathia ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:175213