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Allele : Tab1<b2b449Clo> TGF-beta activated kinase 1/MAP3K7 binding protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 449 Cecilia Lo
Primary Identifier  MGI:5314079 Allele Type  Chemically induced (ENU)
Gene  Tab1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), Overriding aorta, aortic arch anomalies such as hypoplastic transverse arch, interrupted aortic arch (IAA), vascular sling

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
0520 Truncus arteriosus type ii
1241 Transverse arch obstruction
1252 Interrupted aortic arch type b
1300 Ventricular septal defect
1432 Overriding aortic valve

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 coding nucleotide 935 in exon 9 of the cDNA (c.935T>A, NM_025609). This changes the methionine residue to lysine at position 312 of the encoded protein (p.M312K).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories





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