Dnaaf3^b2b1739Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnaaf3^b2b1739Clo
• 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: Chr7:4525932-4535452 bp, - strand Genetic Position: Chr7, 2.61 cM
• Alliance: Dnaaf3^b2b1739Clo page

EFIC summary

Show the 17 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 G to A substitution at coding nucleotide 710 in exon 7 of the cDNA (c.710G>A, NM_001033548). This changes the glycine residue to aspartic acid at position 237 of the encoded protein (p.G237D). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnaaf3^b2b1739Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Dnaaf3 Mutation: 28 strains or lines available

Notes

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

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)