Primary Identifier | MGI:5491242 | Allele Type | Chemically induced (ENU) |
Gene | b2b2153Clo | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | B2B/CvDC |
description | Summative Diagnosis: Mutant Type 1: Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects. Mutant Type 2: Cardiovascular phenotype: Biventricular hypertrophy Noncardiovascular phenotype: Curly tail, low set ears, cleft palate, and micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia Phenotypic Similarity to Human Syndrome: Cardiac hypertrophy (Cardiomyopathy) |