Phenotype Images associated with this Allele - MGI

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Phenotype Images associated with this Allele

Nomenclature

Symbol:	Pcsk6^b2b2830Clo
Name:	proprotein convertase subtilisin/kexin type 6; Bench to Bassinet Program (B2B/CVDC), mutation 2830 Cecilia Lo
MGI ID:	MGI:5618292

Images for
Allele

Click images for details

Image	Caption	Genotypes involving this allele
Image	Caption	Allelic Composition	Genetic Background
	Mutant (E14.5) shows a malrotated heart which is diagnosed as superior-inferior ventricles by ECM histopathology.
	Mutant (E14.5) shows abnormal arrangement of the outflow tracts which was diagnosed by ECM histopathology as double outlet right ventricle (DORV) with interrupted aortic arch (type C) and a hypoplastic pulmonary artery.
	EFIC Summary
	Serial 2D ECM image stack in the coronal plane of mutant (E14.5) reveals {A(I),A,D}, superior-inferior ventricles, double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), common atrium, interrupted aortic arch (type C), hypoplastic pulmonary artery (PA), aberrant right subclavian artery forming incomplete vascular ring. Single lung lobe, left sided inferior vena cava (IVC), total anomalous pulmonary venous return (TAPVR), and left lung isomerism. Click thumbnail to play movie.
	Mutant (E14.5) shows dextrogastria and asplenia.
	Mutant (E14.5) exhibits hydrops and petechiae as well as severe craniofacial defects including microcephaly, proboscis, agnathia, and cyclopia
	EFIC Summary
	Serial 2D ECM image stack of (ED14.5) in the coronal plane revelas atrioventricular septal defect (AVSD), small LV, thick cushion like atrioventricular (AV) valve. Click thumbnail to play movie.
	Mutant (E14.5) exhibits hydrops and petechiae as well as severe craniofacial defects including hydrops, petechiae, microcephaly, proboscis, and agnathia
	Mutant (E14.5) has severe craniofacial defects consistent with otocephaly which include microcephaly with cyclopia, proboscis, and agnathia
	Mutant (E14.5) exhibits a hypoplastic thymus and a left-sided inferior vena cava (IVC).
	Mutant (E14.5) exhibits severe craniofacial defects including agnathia with proboscis, anencephaly, anopthalmia, low-set ears.
	Mutant (E14.5) exhibits craniofacial defects including bilateral anopthalmia, short, narrow snout, agnathia, astomia, and low-set ears

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