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Allele : Daw1<b2b1116Clo> dynein assembly factor with WDR repeat domains 1; Bench to Bassinet Program (B2B/CVDC), mutation 1116 Cecilia Lo
Primary Identifier  MGI:5311383 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:
Cardiovascular phenotype: Dextrocardia and congenital heart disease associated with heterotaxy, including overriding aorta, ventricular septal defects (VSD), and dual inferior vena cava (IVC). Also observed were mutants with situs inversus totalis without congenital heart defects
Noncardiac phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, malaligned sternal vertebra, inverted liver and lung lobation, and left lung isomerism. Airway cilia were dyskinetic/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
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
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 T to A substitution at coding nucleotide 57 in exon 2 of the cDNA (c.57T>A, NM_027725). This changes the tyrosine residue to a translation stop at position 19 of the encoded protein (p.Y19*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Acorn,
  • Acorn
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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

0 Driven By

3 Publication categories





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