Phenotypes Associated with This Genotype

Genotype
MGI:5555838

• Allelic Composition: b2b2059Clo/b2b2059Clo
• Genetic Background: C57BL/6J-b2b2059Clo

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

Mutant 2059-013-NA exhibits heterotaxy with left lung isomerism (1R/1L), midline IVC, and DORV, which are all confirmed by EFIC imaging

cardiovascular system

abnormal inferior vena cava morphology ( J:175213 )

dual inferior vena cava ( J:175213 )

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

double outlet right ventricle ( J:175213 )

double outlet right ventricle with atrioventricular septal defect ( J:175213 )

overriding aortic valve ( J:175213 )

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

left atrial isomerism ( J:175213 )

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

digestive/alimentary system

right-sided stomach ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

polycystic kidney ( J:175213 )

heterotaxia ( J:175213 )

left atrial isomerism ( J:175213 )

right-sided stomach ( J:175213 )

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

• left lung isomerism

situs inversus totalis ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

renal/urinary system

polycystic kidney ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• tracheal airway cilia are slow/dyskinetic/immotile

left pulmonary isomerism ( J:175213 )

• left bronchial isomerism

• left lung isomerism

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• tracheal airway cilia are slow/dyskinetic/immotile

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic kidney disease		DOID:2975		J:175213
primary ciliary dyskinesia		DOID:9562	OMIM:PS244400	J:175213