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Allele : Ccdc39<b2b1735Clo> coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC) mutation 1735, Cecilia Lo
Primary Identifier  MGI:5438066 Allele Type  Chemically induced (ENU)
Gene  Ccdc39 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Cardiovascular phenotype: Dextrocardia and complex congenital heart defects associated with heterotaxy, including double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), and vascular ring. Also observed are mutants with situs inversus totalis without congenital heart defects
Non-Cardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria and left lung isomerism. Also observed were micrognathia, short snout, and immotile airway cilia

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
0100 Situs inversus totalis
0110 Dextrocardia
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
2050 Atrial septal defect
2760 Vascular ring
3804 Congenital heart disease
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4163 Micrognathia
4239 Left bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
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 A substitution at nucleotide +2 following coding nucleotide 357 (c.357+2T>A, NM_026222) in intron 3, changing splice donor site A-GT to A-GA (wich is assumed to be much less efficient or inactive).
  • mutations:
  • Single point mutation
  • synonyms:
  • Gonzo,
  • Gonzo
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