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Allele : Ap2b1<b2b2321Clo> adaptor-related protein complex 2, beta 1 subunit; Bench to Bassinet Program (B2B/CVDC), mutation 2321 Cecilia Lo
Primary Identifier  MGI:5552944 Allele Type  Chemically induced (ENU)
Gene  Ap2b1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Overriding aorta/double outlet right ventricle (DORV, Taussig-Bing subtype) with atrioventricular septal defect (AVSD), perimembranous ventricular septal defect (VSD), right aortic arch (RAA), and ventricular hypertrophy
Noncardiovascular phenotype: Micrognathia, cleft palate, and 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
0606 DORV + AVSD (AV canal)
0610 DORV, Taussig bing
1100 Atrioventricular canal (endocardial cushion defect)
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
2700 Abnormal aortic arch
2720 Right aortic arch
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4163 Micrognathia
4876 Cleft palate
4906 Non-cardiac abnormality
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 A substitution at position 1343 of the cDNA (c.1343T>A, NM_027915). This changes the methionine residue to lysine at position 448 of the encoded protein (p.M448K).
  • mutations:
  • Single point mutation
  • synonyms:
  • Soot,
  • Soot
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Trail: Allele

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