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Allele : Cc2d2a<b2b1035Clo> coiled-coil and C2 domain containing 2A; Bench to Bassinet Program (B2B/CVDC), mutation 1035 Cecilia Lo
Primary Identifier  MGI:5311382 Allele Type  Chemically induced (ENU)
Gene  Cc2d2a Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Heterotaxy with dextrocardia/mesocardia and congenital heart defects (CHD) such as transposition of the great arteries (TGA), superior-inferior ventricles, double outlet right ventricle (DORV), persistent truncus arteriosus (PTA) pulmonary atresia, tricuspid atresia, and atrioventricular septal defect (AVSD). HRHS suspected based on CT for 028-NB.
Noncardiac phenotype: Eye defect with anophthalmia/enophthalmia, preaxial digit duplication/polydactyly, duplex and cystic kidneys, cleft palate, eye defect,and intraurterine growth restriction.

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
0159 Biventricular, discordant atrioventricular connection
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0400 Tricuspid atresia
0500 Truncus arteriosus
0606 DORV + AVSD (AV canal)
1140 Common atrium
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
1610 Pulmonary stenosis
3804 Congenital heart disease
3983 {A,D,D}
4103 Polydactyly
4508 Polycystic kidney disease
4864 Anophthalmia
4876 Cleft palate
4877 Microphthalmia
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 2845 in exon 23 of the cDNA (c.2845C>T, NM_172274). This changes the arginine residue to a translation stop at position 949 of the encoded protein (p.R949*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Blue meanie,
  • Blue meanie
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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