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Allele : Tll1<b2b2476Clo> tolloid-like; Bench to Bassinet Program (B2B/CVDC), mutation 2476 Cecilia Lo
Primary Identifier  MGI:5560905 Allele Type  Chemically induced (ENU)
Gene  Tll1 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), muscular ventricular septal defect (VSD), ventricular non-compaction, aortic arch anomalies with incomplete vascular ring.
Noncardiovascular phenotype: growth retarded, abnormal palate, 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
0600 Double outlet right ventricle
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
1802 Excessive myocardial trabeculation or noncompaction
4906 Non-cardiac abnormality

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 2755 in exon 20 of the cDNA (c.2755T>A, NM_009390). This changes the tryptophan residue to arginine at position 919 of the encoded protein (p.W919R).
  • mutations:
  • Undefined
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Trail: Allele

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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