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Allele : Daw1<b2b1584Clo> dynein assembly factor with WDR repeat domains 1; Bench to Bassinet Program (B2B/CVDC), mutation 1584 Cecilia Lo
Primary Identifier  MGI:5431501 Allele Type  Chemically induced (ENU)
Gene  Daw1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Laterality defects including situs inversus totalis and heterotaxia with congenital heart disease: dextrocardia, double outlet right ventricle (DORV), possible crisscross heart, and bilateral inferior vena cavae (IVC), and right aortic arch (RAA)
Noncardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, malaligned sternal vertebra, liver isomerism, left lung isomerism, and hypoplastic spleen/asplenia. Airway cilia were slow and dyskinetic

Phenotypic Similarity to Human Syndrome: Kartagener's Syndrome, Primary Ciliary Dyskinesia, Heterotaxy

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 Codes Code Description
181 Crisscross Atrioventricular Valves
100 Situs inversus totalis
110 Dextrocardia
190 Heterotaxy Syndrome
2700 Abnormal aortic arch
2720 Right aortic arch
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4447 Hepatic malformation
4771 Asplenia
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
600 Double outlet right ventricle
606 DORV + AVSD (AV canal)

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 197 in exon 3 of the cDNA (c.197T>C, NM_027725). This changes the leucine residue to a proline at position 66 of the encoded protein (p.L66P).
  • synonyms:
  • Nebulous,
  • Nebulous
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

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4 Publication categories





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