Drc1^b2b1654Clo
Chemically induced Allele Detail

Summary

• Symbol: Drc1^b2b1654Clo
• Name: dynein regulatory complex subunit 1; Bench to Bassinet Program (B2B/CVDC), mutation 1654 Cecilia Lo
• MGI ID: MGI:5438062
• Synonyms: Aardvark, Ccdc164^b2b1654Clo
• Gene: Drc1 Location: Chr5:30486386-30524039 bp, + strand Genetic Position: Chr5, 16.42 cM
• Alliance: Drc1^b2b1654Clo page

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: 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Drc1^b2b1654Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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: 36 strains or lines 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

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 (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)