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Allele : Slit3<b2b2362.1Clo> slit guidance ligand 3; Bench to Bassinet Program (B2B/CVDC) mutation 2362, subline 1, Cecilia Lo
Primary Identifier  MGI:5560156 Allele Type  Chemically induced (ENU)
Gene  Slit3 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts

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
0170 Ectopia cordis
0606 DORV + AVSD (AV canal)
0610 DORV, Taussig bing
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
4414 Gastroschisis

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2362Clo. The molecular lesion for this subline is attributed to a G to T substitution at coding nucleotide postion 3538 in exon 31 of the cDNA (c.3538G>T, NM_011412). This changes the alanine residue to serine at position 1180 of the expressed protein (p.A1180S).
  • mutations:
  • Single point mutation
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