Phenotypes Associated with This Genotype

Genotype
MGI:5476435

hm1

• Allelic Composition: Adamts6^b2b1879.1Clo/Adamts6^b2b1879.1Clo
• Genetic Background: C57BL/6J-Adamts6^b2b1879.1Clo

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

Mutant 1879-002-NA shows abnormal placement of the outflow with malformed pulmonary trunk and is diagnosed with DORV by EFIC imaging

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 )