Phenotypes Associated with This Genotype

Genotype
MGI:5646375

• Allelic Composition: b2b2966Clo/b2b2966Clo
• Genetic Background: C57BL/6J-b2b2966Clo

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

Mutant 2966-005-2 (E15.5) displays heterotaxy with mesocardia and left lung isomerism.

cardiovascular system

abnormal pulmonary artery morphology ( J:175213 )

pulmonary artery hypoplasia ( J:175213 )

interrupted aortic arch ( J:175213 )

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

abnormal right subclavian artery morphology ( J:175213 )

persistent truncus arteriosus ( J:175213 )

double outlet right ventricle ( J:175213 )

mesocardia ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

limbs/digits/tail

abnormal autopod morphology ( J:175213 )

syndactyly ( J:175213 )

curly tail ( J:175213 )

growth/size/body

lowered ear position ( J:175213 )

abnormal thoracic cavity morphology ( J:175213 )

kidney cyst ( J:175213 )

decreased body size ( J:175213 )

left pulmonary isomerism ( J:175213 )

respiratory system

left pulmonary isomerism ( J:175213 )

renal/urinary system

kidney cyst ( J:175213 )

dilated renal tubule ( J:175213 )

absent kidney ( J:175213 )

vision/eye

microphthalmia ( J:175213 )

anophthalmia ( J:175213 )

nervous system

exencephaly ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

craniofacial

lowered ear position ( J:175213 )

hearing/vestibular/ear

lowered ear position ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
distal arthrogryposis		DOID:0050646	OMIM:PS108120	J:175213