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Allele : Gldc<b2b2679Clo> glycine decarboxylase; Bench to Bassinet Program (B2B/CVDC), mutation 2679 Cecilia Lo
Primary Identifier  MGI:5560908 Allele Type  Chemically induced (ENU)
Gene  Gldc Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV) with non-commited ventricular septal defect (VSD)
Noncardiovascular Phenotype: Exencephaly, short snout, agnathia, omphalocele, cystic kidney, and hydronephrosis

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
4134 Skull anomaly, congenital
4401 Cleft palate and cleft lip
4404 Omphalocele
4502 Hydronephrosis
4864 Anophthalmia
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 2440 in exon 20 of the cDNA (c.2440T>C, NM_138595). This changes the serine residue to proline at position 814 of the encoded protein (p.S814P).
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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