Phenotypes Associated with This Genotype

Genotype
MGI:5560506

• Allelic Composition: Tbc1d32^b2b2596Clo/Tbc1d32^b2b2596Clo
• Genetic Background: C57BL/6J-Tbc1d32^b2b2596Clo

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

Mutant 2596-005-1 (E15.5) shows pulmonary stenosis, enlarged aorta, which is diagnosed as PTA by EFIC imaging, left lung isomerism (1R/1L), and hypoplastic lungs

cardiovascular system

dual inferior vena cava ( J:175213 )

persistent truncus arteriosus ( J:175213 )

persistent truncus arteriosus type i ( J:175213 )

overriding aortic valve ( J:175213 )

right atrial isomerism ( J:175213 )

atrioventricular septal defect ( J:175213 )

craniofacial

abnormal frontonasal prominence morphology ( J:175213 )

• failure in fusion of the frontonasal prominence

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

tracheoesophageal fistula ( J:175213 )

growth/size/body

right atrial isomerism ( J:175213 )

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

kidney cyst ( J:175213 )

limbs/digits/tail

polydactyly ( J:175213 )

nervous system

exencephaly ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

duplex kidney ( J:175213 )

respiratory system

tracheoesophageal fistula ( J:175213 )

pulmonary hypoplasia ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )