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Allele : Dnaaf3<b2b1739Clo> dynein, axonemal assembly factor 3; Bench to Bassinet Program (B2B/CVDC), mutation 1739 Cecilia Lo
Primary Identifier  MGI:5442117 Allele Type  Chemically induced (ENU)
Gene  Dnaaf3 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and complex congenital heart disease associated with heterotaxy: levocardia/dextrocardia, right aortic arch (RAA), abnormal systemic venous connection including dual inferior vena cava (IVC), and hemiazygous connection.
Noncardiovascular phenotype: Situs inversus totalis and heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted lung lobation, left lung isomerism, malaligned sternal vertebra, and hypoplastic spleen. Cilia in tracheal airway cilia were immotile

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
2700 Abnormal aortic arch
2720 Right aortic arch
2800 Systemic venous anomaly
2810 Inferior vena cava anomaly
2812 Inferior vena cava left sided
3237 Bronchial situs inversus
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4447 Hepatic malformation
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 G to A substitution at coding nucleotide 710 in exon 7 of the cDNA (c.710G>A, NM_001033548). This changes the glycine residue to aspartic acid at position 237 of the encoded protein (p.G237D).
  • mutations:
  • Single point mutation
  • synonyms:
  • Barker,
  • Barker
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Trail: Allele

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0 Mutation Involves

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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