Phenotypes Associated with This Genotype

Genotype
MGI:5560283

• Allelic Composition: Ift140^b2b1283Clo/Ift140^b2b1283Clo
• Genetic Background: C57BL/6J-Ift140^b2b1283Clo

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

Mutant 1283-007-NA exhibits abnormal arrangement of the outflow tracts with the aorta anterior, RAA, and thickened ventricular wall. Sample is diagnosed with PTA and biventricular hypertrophy by EFIC imaging

cardiovascular system

abnormal aortic arch morphology ( J:175213 )

right aortic arch ( J:175213 )

persistent truncus arteriosus ( J:175213 )

atrioventricular septal defect ( J:175213 )

craniofacial

cleft palate ( J:175213 )

digestive/alimentary system

cleft palate ( J:175213 )

growth/size/body

cleft palate ( J:175213 )

kidney cyst ( J:175213 )

left pulmonary isomerism ( J:175213 )

hematopoietic system

absent spleen ( J:175213 )

immune system

absent spleen ( J:175213 )

limbs/digits/tail

polydactyly ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

respiratory system

left pulmonary isomerism ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
short-rib thoracic dysplasia 9 with or without polydactyly		DOID:0110097	OMIM:266920	J:175213