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Chemically induced Allele Detail
Symbol: Dnaaf4b2b811.1Clo
Name: dynein axonemal assembly factor 4; Bench to Bassinet Program (B2B/CVDC), mutation 811, subline 1 Cecilia Lo
MGI ID: MGI:5311375
Synonyms: Dyx1c1shrp, Sharpei, Shar-pei
Gene: Dnaaf4  Location: Chr9:72866067-72880346 bp, + strand  Genetic Position: Chr9, 40.08 cM, cytoband D
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.

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. 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, Dnaaf4b2b811.1Clo, 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 Dnaaf4 Mutation:  20 strains or lines available
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

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:  3 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 6.21
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