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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 17 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: Heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), dual inferior vena cava (IVC), dual hepatic vein, azygous venous connection
Noncardiac phenotype: 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 Code ID Code Description
0102 Levocardia
0110 Dextrocardia
0190 Heterotaxy Syndrome
0800 L-loop transpostion of the great arteries
2050 Atrial septal defect
2810 Inferior vena cava anomaly
3974 {I,L,I}
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

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
09/09/2014
MGI 5.19
The Jackson Laboratory