Phenotypes Associated with This Genotype

Genotype
MGI:5437113

• Allelic Composition: b2b1146Clo/b2b1146Clo
• Genetic Background: C57BL/6J-b2b1146Clo

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

Mutant 1146-012-LA displays transposition of the great arteries (TGA) with abnormal lung lobation

cardiovascular system

double outlet right ventricle, Taussig bing type ( J:175213 )

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

dextrocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

growth/size/body

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

heterotaxia ( J:175213 )

left pulmonary isomerism ( J:175213 )

right pulmonary isomerism ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

polycystic kidney ( J:175213 )

respiratory system

abnormal respiratory motile cilium physiology ( J:175213 )

• airway cilia dysmotility

immotile respiratory cilia ( J:175213 )

left pulmonary isomerism ( J:175213 )

right pulmonary isomerism ( J:175213 )

cellular

abnormal respiratory motile cilium physiology ( J:175213 )

• airway cilia dysmotility

immotile respiratory cilia ( 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
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213