Phenotypes Associated with This Genotype

Genotype
MGI:5312334

• Allelic Composition: Dnaaf4^b2b811.1Clo/Dnaaf4^b2b811.1Clo
• Genetic Background: C57BL/6J-Dnaaf4^b2b811.1Clo

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

Mutant 811-058-LB exhibits inverted outflow that is diagnosed with overriding aorta by EFIC imaging

cardiovascular system

coronary fistula ( J:205312 )

• in some mice

abnormal inferior vena cava morphology ( J:205312 )

• left-sided in some mice

double outlet right ventricle with atrioventricular septal defect ( J:205312 )

• in some mice with right atrial isomerism, muscular and atrioventricular septal defect

overriding aortic valve ( J:175213 )

transposition of great arteries ( J:205312 )

• in some mice

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

right atrial isomerism ( J:205312 )

• in some mice with double outlet right ventricle, muscular and atrioventricular septal defect

dextrocardia ( J:205312 )

• in some mice

atrioventricular septal defect ( J:205312 )

• in some mice with right atrial isomerism and double outlet right ventricle

ventricular septal defect ( J:175213 , J:205312 )

• in some mice with double outlet right ventricle, right atrial isomerism and atrioventricular septal defect (J:205312)

muscular ventricular septal defect ( J:205312 )

• in some mice with double outlet right ventricle, right atrial isomerism and atrioventricular septal defect

cardiac hypertrophy ( J:175213 )

• biventricular hypertrophy

growth/size/body

cardiac hypertrophy ( J:175213 )

• biventricular hypertrophy

heterotaxia ( J:205312 )

right atrial isomerism ( J:205312 )

• in some mice with double outlet right ventricle, muscular and atrioventricular septal defect

right-sided stomach ( J:205312 )

• in some mice

abdominal situs ambiguus ( J:175213 )

lung situs inversus ( J:205312 )

• in some mice

situs inversus totalis ( J:175213 , J:205312 )

• in some mice (J:205312)

skeleton

abnormal sternum morphology ( J:175213 )

digestive/alimentary system

right-sided stomach ( J:205312 )

• in some mice

endocrine/exocrine glands

abnormal pancreas morphology ( J:205312 )

• left-sided pancreas in some mice

hematopoietic system

abnormal spleen morphology ( J:205312 )

• left-sided spleen in some mice

respiratory system

immotile respiratory cilia ( J:175213 )

• immotile cilia

lung situs inversus ( J:205312 )

• in some mice

immune system

abnormal spleen morphology ( J:205312 )

• left-sided spleen in some mice

cellular

abnormal brain ependyma motile cilium physiology ( J:205312 )

• immotile cilia

immotile respiratory cilia ( J:175213 )

• immotile cilia

mortality/aging

neonatal lethality, incomplete penetrance ( J:205312 )

• some mice with congenital heart defects die at birth

prenatal lethality, incomplete penetrance ( J:205312 )

• some mice with congenital heart defects die prenatally

nervous system

abnormal brain ependyma motile cilium physiology ( J:205312 )

• immotile cilia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Robinow syndrome		DOID:0060254	OMIM:PS268310	J:175213