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Allele : Tbc1d32<b2b2596Clo> TBC1 domain family, member 32; Bench to Bassinet Program (B2B/CVDC), mutation 2596 Cecilia Lo
Primary Identifier  MGI:5560497 Allele Type  Chemically induced (ENU)
Gene  Tbc1d32 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype (one mutant): PTA (Type A1), overriding aorta, atrioventricular septal defect (AVSD), dual inferior vena cava (IVC), and right atrial isomerism
Noncardiovascular Phenotype: Excencephaly, craniofacial defect with cleft lip/palate and failure in fusion of the frontonasal prominence, tracheoesophogeal fistula, hypoplastic lungs, eye defects such as anopthalmia and microphthalmia, polydactyly, cystic/duplex kidneys

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0500 Truncus arteriosus
0510 Truncus arteriosus type i
1100 Atrioventricular canal (endocardial cushion defect)
1432 Overriding aortic valve
2810 Inferior vena cava anomaly
4103 Polydactyly
4134 Skull anomaly, congenital
4163 Micrognathia
4170 Hand and/or foot anomaly
4202 Tracheoesophageal fistula
4401 Cleft palate and cleft lip
4864 Anophthalmia
4875 Cleft lip
4876 Cleft palate
4877 Microphthalmia
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to A substitution at coding nucleotide 3096 in exon 27 of the cDNA (c.3096C>A, NM_001033385). This changes the tyrosine residue to a translation stop at position 1032 of the encoded protein (p.Y1032*).
  • mutations:
  • Single point mutation
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