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Allele : Hectd1<b2b327Clo> HECT domain E3 ubiquitin protein ligase 1; Bench to Bassinet Program (B2B/CVDC), mutation 327 Cecilia Lo
Primary Identifier  MGI:5313700 Allele Type  Chemically induced (ENU)
Gene  Hectd1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Hypoplastic aorta, aortic atresia, dysplastic semilunar valves, overriding aorta, perimembranous (pmVSD) and muscular (mVSD) ventricular septal defects,and coronary fistula.

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
0320 Aortic atresia
1310 Ventricular septal defect, membranous
1602 Dysplastic pulmonary valve
2230 Coronary fistula (arterio-venous or arterio-cameral)
2703 Hypoplasia ascending aorta
3804 Congenital heart disease

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 3264 in exon 22 of the cDNA (c.3264T>A, NM_144788). This changes the tyrosine residue to a translation stop at position 1088 of the encoded protein (p.Y1088*).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

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