Daw1^b2b1116Clo
Chemically induced Allele Detail

Summary

• Symbol: Daw1^b2b1116Clo
• 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: Daw1^b2b1116Clo 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.

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 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, Daw1^b2b1116Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Daw1 Mutation: 22 strains or lines available

Notes

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

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)