Phenotypes Associated with This Genotype

Genotype
MGI:5615273

• Allelic Composition: Foxh1^b2b2662Clo/Foxh1^b2b2662Clo
• Genetic Background: C57BL/6J-Foxh1^b2b2662Clo

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

Mutant exhibits displaced outflow tracts which is diagnosed as double outlet single ventricle, right aortic arch, and aberrant right subclavian artery forming incomplete vascular ring by ECM imaging

cardiovascular system

abnormal aortic arch morphology ( J:175213 )

right aortic arch ( J:175213 )

vascular ring ( J:175213 )

abnormal right subclavian artery morphology ( J:175213 )

abnormal inferior vena cava morphology ( J:175213 )

double outlet right ventricle with atrioventricular septal defect ( J:175213 )

double outlet right ventricle, Taussig bing type ( J:175213 )

common atrium ( J:175213 )

dextrocardia ( J:175213 )

mesocardia ( J:175213 )

common ventricle ( J:175213 )

heart left ventricle hypoplasia ( J:175213 )

absent pericardium ( J:175213 )

growth/size/body

decreased mouth size ( J:175213 )

proboscis ( J:175213 )

lowered ear position ( J:175213 )

• low set ears

abnormal thoracic cavity morphology ( J:175213 )

microcephaly ( J:175213 )

heterotaxia ( J:175213 )

• Complex congenital heart disease associated with heterotaxy with right isomerism.

right-sided stomach ( J:175213 )

abdominal situs ambiguus ( J:175213 )

right pulmonary isomerism ( J:175213 )

situs inversus with levocardia ( J:175213 )

craniofacial

abnormal cranium morphology ( J:175213 )

• craniofacial defects including anencephaly, acrania, agnathia, microstima, microcephaly, low set ears, proboscis, cylcopia, and anophthalmia.

absent mandible ( J:175213 )

acrania ( J:175213 )

decreased mouth size ( J:175213 )

proboscis ( J:175213 )

lowered ear position ( J:175213 )

• low set ears

skeleton

abnormal cranium morphology ( J:175213 )

• craniofacial defects including anencephaly, acrania, agnathia, microstima, microcephaly, low set ears, proboscis, cylcopia, and anophthalmia.

absent mandible ( J:175213 )

acrania ( J:175213 )

abnormal sternum morphology ( J:175213 )

• malaligned sternal vertebra

muscle

diaphragmatic hernia ( J:175213 )

• right side diaphragmatic hernia

respiratory system

right pulmonary isomerism ( J:175213 )

nervous system

anencephaly ( J:175213 )

digestive/alimentary system

right-sided stomach ( J:175213 )

abnormal intestine morphology ( J:175213 )

• intestinal malrotation

vision/eye

cyclopia ( J:175213 )

anophthalmia ( J:175213 )

hematopoietic system

thymus hypoplasia ( J:175213 )

absent spleen ( J:175213 )

immune system

thymus hypoplasia ( J:175213 )

absent spleen ( J:175213 )

endocrine/exocrine glands

thymus hypoplasia ( J:175213 )

hearing/vestibular/ear

lowered ear position ( J:175213 )

• low set ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
agnathia-otocephaly complex		DOID:0060341	OMIM:202650	J:175213
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213