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Allele : Trappc10<b2b2416Clo> trafficking protein particle complex 10; Bench to Bassinet Program (B2B/CVDC) mutation 2416, Cecilia Lo
Primary Identifier  MGI:5560902 Allele Type  Chemically induced (ENU)
Gene  Trappc10 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Overriding aorta, atrioventricular (AVSD) or ventricular septal defects (VSD), hypoplastic aorta and pulmonary artery, aortic arch anomaly such as incomplete vascular ring, biventricular hypertrophy
Noncardiovascular phenotype: Holoprosencephaly, anencephaly, severe craniofacial defects with astomia, low-set ears and proboscis, hypoplastic thymus

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
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4332 Anencephaly
4338 Holoprosencephaly
4864 Anophthalmia
7505 Biventricular hypertrophy

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 1040 in exon 8 of the cDNA (c.1040T>C, NM_001081055). This changes the valine residue to alanine at position 347 of the encoded protein (p.V347A).
  • mutations:
  • Undefined
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Trail: Allele

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