| Primary Identifier | MGI:5618292 | Allele Type | Chemically induced (ENU) |
| Gene | Pcsk6 | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | Summative Diagnosis: Cardiovascular phenotypes: Complex congenital disease associated with heterotaxy, such as double outlet right ventricle (DORV), hypoplastic left ventricle, common atrium, atrioventricular septal defect (AVSD), total anomalous pulmoary venous return (TAPVR), superior-inferior ventricles. Noncardiovascular phenotype: microcephaly, anencephaly, anophthalmia/micophthalmia, cycoplasia, agnathia, low-set ears, hypoplastic thymus Phenotypic Similarity to Human Syndrome: Otocephaly, Heterotaxy syndrome |
| molecularNote | This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G-to-A single point mutation at position 73104029, exon 8, nucleotide 1013 of the cDNA that is predicted to convert G-to-D at position 338 of the encoded protein (exon8:c.G1013A:p.G338D, NM_011048). The mutant phenotype is attributed to a mutation in the Pcsk6 gene. |
