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Drc1b2b1654Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Drc1b2b1654Clo
Name: dynein regulatory complex subunit 1; Bench to Bassinet Program (B2B/CVDC), mutation 1654 Cecilia Lo
MGI ID: MGI:5438062
Synonyms: Aardvark, Ccdc164b2b1654Clo
Gene: Drc1  Location: Chr5:30341663-30366708 bp, + strand  Genetic Position: Chr5, 16.42 cM
Mutant 1654-002-MNA displays levocardia with dual hepatic vein

Show the 24 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Drc1 Mutation:  1 strain or line available
Notes
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

Phenotypic Similarity to Human Syndrome: Heterotaxy, Kartagener's syndrome, Primary ciliary dyskinesia

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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory