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Allele : Smad6<b2b390Clo> SMAD family member 6; Bench to Bassinet Program (B2B/CvDC), mutation 390 Cecilia Lo
Primary Identifier  MGI:5316777 Allele Type  Chemically induced (ENU)
Gene  Smad6 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Transposition of the great arteries (D-TGA), double outlet right ventricle (DORV), and ventricular septal defects (VSD).

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
0400 Tricuspid atresia
0600 Double outlet right ventricle
0700 D-loop transposition of the great arteries
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
3804 Congenital heart disease

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a A to T substitution at coding nucleotide 982 in exon 4 of the cDNA (c.982A>T, NM_008542). This changes the lysine residue to a stop at position 328 of the encoded protein (p.K328*).
  • mutations:
  • Single point mutation
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Trail: Allele

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0 Mutation Involves

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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