About   Help   FAQ
Chemically induced Allele Detail
Symbol: Dnaaf3b2b1739Clo
Name: dynein, axonemal assembly factor 3; Bench to Bassinet Program (B2B/CVDC), mutation 1739 Cecilia Lo
MGI ID: MGI:5442117
Synonyms: Barker
Gene: Dnaaf3  Location: Chr7:4522933-4532453 bp, - strand  Genetic Position: Chr7, 2.61 cM
EFIC summary

Show the 17 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 G-to-A single point mutation at position 710 of the cDNA (c.G710A, NM_001033548) that is predicted to cause an amino acid substitution at position 237 of the encoded protein (p.G237D). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnaaf3b2b1739Clo, 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: 8 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 Dnaaf3 Mutation:  5 strains or lines available
Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and complex congenital heart disease associated with heterotaxy: levocardia/dextrocardia, right aortic arch (RAA), abnormal systemic venous connection including dual inferior vena cava (IVC), and hemiazygous connection.
Noncardiovascular phenotype: Situs inversus totalis and heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted lung lobation, left lung isomerism, malaligned sternal vertebra, and hypoplastic spleen. Cilia in tracheal airway cilia were immotile

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
0100 Situs inversus totalis
0110 Dextrocardia
0190 Heterotaxy syndrome
2700 Abnormal aortic arch
2720 Right aortic arch
2800 Systemic venous anomaly
2810 Inferior vena cava anomaly
2812 Inferior vena cava left sided
3237 Bronchial situs inversus
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4447 Hepatic malformation
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.13
The Jackson Laboratory