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Allele : Smarca4<b2b692Clo> SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; Bench to Bassinet Program (B2B/CvDC), mutation 692 Cecilia Lo
Primary Identifier  MGI:5316781 Allele Type  Chemically induced (ENU)
Gene  Smarca4 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Phenotype 1: Cardiovascular defects: Double outlet right ventricle (DORV)/overriding aorta, perimembranous (pmVSD), muscular ventricular septal defect (mVSD)
Phenotype 2: Cardiovascular defects: Coronary artery fistula to right ventricle (RV)

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
0600 Double outlet right ventricle
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
2233 Coronary-cameral fistula to right ventricle

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 1249 in exon 8 of the cDNA (c.1249C>T, NM_011417). This changes the arginine residue to cysteine at position 417 of the encoded protein (p.R417C).
  • mutations:
  • Single point mutation
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