Phenotypes Associated with This Genotype

Genotype
MGI:5561551

• Allelic Composition: b2b2738Clo/b2b2738Clo
• Genetic Background: C57BL/6J-b2b2738Clo

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

Mutant 2738-003-NA is diagnosed with RAA and biventricular hypertrophy which is confirmed by EFIC imaging

cardiovascular system

abnormal aortic arch morphology ( J:175213 )

abnormal aortic arch and aortic arch branch attachment ( J:175213 )

right aortic arch ( J:175213 )

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

renal/urinary system

absent kidney ( J:175213 )

vision/eye

anophthalmia ( J:175213 )

nervous system

abnormal cerebellum morphology ( J:175213 )

• Chiari malformation

craniofacial

absent mandible ( J:175213 )

lowered ear position ( J:175213 )

hearing/vestibular/ear

lowered ear position ( J:175213 )

limbs/digits/tail

oligodactyly ( J:175213 )

kinked tail ( J:175213 )

skeleton

absent mandible ( J:175213 )

growth/size/body

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )

absent mandible ( J:175213 )

lowered ear position ( J:175213 )

muscle

heart left ventricle hypertrophy ( J:175213 )

heart right ventricle hypertrophy ( J:175213 )