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Chemically induced Allele Detail
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: Chr5:30281388-30366695 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.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a A-to-G single point mutation at position 2021 of the cDNA (c.A2021G, NM_001033460) that is predicted to cause a tyrosine to cysteine amino acid substitution at position 674 of the encoded protein (p.Y674C). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Drc1b2b1654Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 10 anatomical structures
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:  18 strains or lines available
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

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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