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Allele : Ccdc39<b2b1304Clo> coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CvDC) mutation 1304, Cecilia Lo
Primary Identifier  MGI:5316786 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:
Cardiovascular phenotype: Laterality defects including situs inversus totalis and heterotaxy with congenital heart disease: dextrocardia and dilated systemic vein
Noncardiovascular phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations of malaligned sternal vertebra, hypoplastic spleen, and inverted lung lobation. Also observed were cystic kidneys, hydronephrosis, and immotile tracheal 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
0190 Heterotaxy Syndrome
2800 Systemic venous anomaly
3816 Abdominal situs inversus
4100 Skeletal, skin, muscle anomaly
4502 Hydronephrosis
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 coding nucleotide position 2 in exon 1 of the cDNA (c.2T>A, NM_026222). This changes the methionine translation start residue to lysine at position 1 of the encoded protein (p.M1K).
  • mutations:
  • Single point mutation
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