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Phenotype Images associated with this Allele
Nomenclature
Symbol: Pcsk6b2b2830Clo
Name: proprotein convertase subtilisin/kexin type 6; Bench to Bassinet Program (B2B/CVDC), mutation 2830 Cecilia Lo
MGI ID: MGI:5618292
Images for
Allele
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Image Caption Genotypes involving this allele
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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory