Phenotypes Associated with This Genotype

Genotype
MGI:5512641

• Allelic Composition: Tbc1d32^b2b2284Clo/Tbc1d32^b2b2284Clo
• Genetic Background: C57BL/6J-Tbc1d32^b2b2284Clo

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

Mutant 2284-002-3 (E15.5) presents with globular heart exhibiting left pulmonary isomerism and possible single outflow tract indicative of persistent truncus arteriosus (PTA), which was confirmed by EFIC histology

cardiovascular system

pulmonary artery hypoplasia ( J:175213 )

abnormal aortic arch morphology ( J:175213 )

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

premature closure of the ductus arteriosus ( J:175213 )

abnormal inferior vena cava morphology ( J:175213 )

• midline inferior vena cava

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

left atrial isomerism ( J:175213 )

right atrial isomerism ( J:175213 )

mesocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

craniofacial

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

facial cleft ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

right-sided stomach ( J:175213 )

dilated esophagus ( J:175213 )

tracheoesophageal fistula ( J:175213 )

growth/size/body

cleft upper lip ( J:175213 )

cleft palate ( J:175213 )

short snout ( J:175213 )

facial cleft ( J:175213 )

kidney cyst ( J:175213 )

heterotaxia ( J:175213 )

left atrial isomerism ( J:175213 )

right atrial isomerism ( J:175213 )

right-sided stomach ( J:175213 )

left pulmonary isomerism ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

limbs/digits/tail

polydactyly ( J:175213 )

preaxial polydactyly ( J:175213 )

• preaxial digit duplication

renal/urinary system

kidney cyst ( J:175213 )

respiratory system

tracheoesophageal fistula ( J:175213 )

left pulmonary isomerism ( J:175213 )

vision/eye

anophthalmia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome		DOID:1935	OMIM:PS209900	J:175213
Meckel syndrome		DOID:0050778	OMIM:PS249000	J:175213
VACTERL association		DOID:14679	OMIM:192350 OMIM:276950	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213