| Primary Identifier | MGI:5646302 | Allele Type | Chemically induced (ENU) |
| Gene | Adamts6 | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | Summative Diagnosis: Cardiovascular phenotypes: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy. Noncardiovascular phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate. Phenotypic Similarity to Human Syndrome: Arthrogryposis multiplex congenita |
| molecularNote | This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2966Clo. The molecular lesion for this subline is attributed to a C to G substitution at coding nucleotide 447 in exon 3 of the cDNA (c.447C>G, NM_001081020). This changes the serine residue to arginine at position 149 of the encoded protein (p.S149R). |
