Dnaaf4^b2b811.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnaaf4^b2b811.1Clo
• Name: dynein axonemal assembly factor 4; Bench to Bassinet Program (B2B/CVDC), mutation 811, subline 1 Cecilia Lo
• MGI ID: MGI:5311375
• Synonyms: Dyx1c1^shrp, Sharpei, Shar-pei
• Gene: Dnaaf4 Location: Chr9:72866067-72880346 bp, + strand Genetic Position: Chr9, 40.08 cM, cytoband D
• Alliance: Dnaaf4^b2b811.1Clo page

Mutant 811-058-LB exhibits inverted outflow that is diagnosed with overriding aorta by EFIC imaging

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. It is a subline of b2b811Clo. The molecular lesion for this subline is a T to A substitution at coding nucleotide 2 in exon 1 (c.2T>A, NM_001163725). This changes the methionine translation start residue to lysine at position 1 in the encoded protein. Additional incidental mutations were detected in sequencing for the causative mutation, Dnaaf4^b2b811.1Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

13 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 Dnaaf4 Mutation: 21 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with hypoplastic pulmonary artery, persistent truncus arteriosus (PTA), and atrioventricular septal defect (AVSD), small left ventricle (LV).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic lungs, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.

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
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
3804	Congenital heart disease
100	Situs inversus totalis
1100	Atrioventricular canal (endocardial cushion defect)
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
1802	Excessive myocardial trabeculation or noncompaction
190	Heterotaxy Syndrome
2230	Coronary fistula (arterio-venous or arterio-cameral)
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
4100	Skeletal, skin, muscle anomaly
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
700	D-loop transposition of the great arteries

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: 3 reference(s)