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Allele : Drc1<b2b1654Clo> dynein regulatory complex subunit 1; Bench to Bassinet Program (B2B/CVDC), mutation 1654 Cecilia Lo
Primary Identifier  MGI:5438062 Allele Type  Chemically induced (ENU)
Gene  Drc1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Cardiovascular phenotype: Heterotaxy with complex congenital heart disease such as dextrocardia/levocardia, transposition of the great arteries (TGA), ventricular (VSD) and atrioventricular septal defects (AVSD), dual inferior vena cava (IVC), interrupted aortic arch type B (IAA), dual hepatic vein, and azygous venous connection. Also observed are mutants with situs inversus totalis without congenital heart defects
Noncardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted liver lobation, left lung isomerism, malaligned sternal vertebra, and apslenia. Also observed were micrognathia and immotile/dyskinetic 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 Codes Code Description
110 Dextrocardia
800 L-loop transpostion of the great arteries
100 Situs inversus totalis
1250 Interrupted aortic arch
1252 Interrupted aortic arch type b
1300 Ventricular septal defect
190 Heterotaxy Syndrome
2700 Abnormal aortic arch
2810 Inferior vena cava anomaly
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4239 Left bronchial isomerism
4771 Asplenia
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 an A to G substitution at coding nucleotide 2021 in exon 15 of the cDNA (c.2021A>G, NM_001033460). this changes the tyrosine residue to cysteine at position 674 of the encoded protein (p.Y674C).
  • mutations:
  • Single point mutation
  • synonyms:
  • Ccdc164<b2b1654Clo>,
  • Aardvark,
  • Aardvark,
  • Ccdc164<b2b1654Clo>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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