Phenotypes Associated with This Genotype

Genotype
MGI:5549972

• Allelic Composition: b2b2187Clo/b2b2187Clo
• Genetic Background: C57BL/6J-b2b2187Clo

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

Mutant 2187-004-NC has a hypoplastic aorta and pulmonary stenosis as well as DORV and biventricular hypertrophy that was confirmed by EFIC imaging

cardiovascular system

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

double outlet right ventricle ( J:175213 )

overriding aortic valve ( J:175213 )

ventricular septal defect ( J:175213 )

perimembraneous ventricular septal defect ( J:175213 )

pulmonary valve stenosis ( J:175213 )

craniofacial

micrognathia ( J:175213 )

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

limbs/digits/tail

abnormal hindlimb morphology ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

hydronephrosis ( J:175213 )

skeleton

micrognathia ( J:175213 )

abnormal sternum morphology ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

micrognathia ( J:175213 )

cleft palate ( J:175213 )

kidney cyst ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )