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Allele : Pigv<b2b2859Clo> phosphatidylinositol glycan anchor biosynthesis, class V; Bench to Bassinet Program (B2B/CVDC), mutation 2859 Cecilia Lo
Primary Identifier  MGI:5645357 Allele Type  Chemically induced (ENU)
Gene  Pigv Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Overriding aorta/Double outlet right ventricle (DORV) with atrioventricular (AVSD) or ventricular septal defects (VSD), right aortic arch, vascular ring.

Noncardiovascular phenotype: Mutants are runted, with hypoplastic thymus, craniofacial defects including microphthalmia, micrognathia, and cleft palate, and kidney defects such as hydronephrosis, duplex kidney, and 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 Codes Code Description
1300 Ventricular septal defect
1432 Overriding aortic valve
2720 Right aortic arch
2760 Vascular ring
4163 Micrognathia
4502 Hydronephrosis
4508 Polycystic kidney disease
4876 Cleft palate
4877 Microphthalmia
4906 Non-cardiac abnormality
600 Double outlet right ventricle
606 DORV + AVSD (AV canal)

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at coding nucleotide 563 in exon 3 of the cDNA (c.563G>A, NM_178698). This changes the arginine residue to histidine at position 188 of the encoded protein (p.R188H).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories





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