Phenotypes associated with this allele

• Allele Symbol: Adamts6^b2b2029Clo
• Allele Name: Bench to Bassinet Program (B2B/CVDC), mutation 2029 Cecilia Lo
• Allele ID: MGI:5487287
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adamts6^b2b2029Clo/Adamts6^b2b2029Clo	C57BL/6J-Adamts6^b2b2029Clo	MGI:5487397

Genotype
MGI:5487397

hm1

• Allelic Composition: Adamts6^b2b2029Clo/Adamts6^b2b2029Clo
• Genetic Background: C57BL/6J-Adamts6^b2b2029Clo

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

Mutant 2029-003-NC exhibits a dilated right ventricle (RV), malaligned great arteries, which is confirmed as double outlet right ventricle by EFIC imaging. The pulmonary artery is dilated, while the ascending aorta is hypoplastic.

cardiovascular system

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 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

muscular ventricular septal defect ( J:175213 )

craniofacial

cleft palate ( J:175213 )

short snout ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

homeostasis/metabolism

hydrops fetalis ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

limbs/digits/tail

abnormal hindlimb morphology ( J:175213 )

• abnormal flexure of the hindlimbs

skeleton

abnormal vertebrae morphology ( J:175213 )

• midline fusion defect of the sternal vertebra

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )