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Chemically induced Allele Detail
Symbol: Daw1b2b1116Clo
Name: dynein assembly factor with WDR repeat domains 1; Bench to Bassinet Program (B2B/CVDC), mutation 1116 Cecilia Lo
MGI ID: MGI:5311383
Synonyms: Acorn
Gene: Daw1  Location: Chr1:83137473-83188295 bp, + strand  Genetic Position: Chr1, 42.7 cM, cytoband C5
Alliance: Daw1b2b1116Clo page
Mutant 1116-027-NA presents with dextrocardia and inverted, parallel outflow which is diagnosed as overriding aorta by EFIC imaging

Show the 21 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 T to A substitution at coding nucleotide 57 in exon 2 of the cDNA (c.57T>A, NM_027725). This changes the tyrosine residue to a translation stop at position 19 of the encoded protein (p.Y19*). Additional incidental mutations were detected in sequencing for the causative mutation, Daw1b2b1116Clo, 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 Daw1 Mutation:  16 strains or lines available
Summative Diagnosis:
Cardiovascular phenotype: Dextrocardia and congenital heart disease associated with heterotaxy, including overriding aorta, ventricular septal defects (VSD), and dual inferior vena cava (IVC). Also observed were mutants with situs inversus totalis without congenital heart defects
Noncardiac phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, malaligned sternal vertebra, inverted liver and lung lobation, and left lung isomerism. Airway cilia were dyskinetic/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
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
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). 2011-09-12;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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MGI 6.22
The Jackson Laboratory