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Allele : Dnaaf4<b2b811.1Clo> dynein axonemal assembly factor 4; Bench to Bassinet Program (B2B/CVDC), mutation 811, subline 1 Cecilia Lo
Primary Identifier  MGI:5311375 Allele Type  Chemically induced (ENU)
Gene  Dnaaf4 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Dyx1c1<shrp>,
  • Shar-pei,
  • Dyx1c1<shrp>,
  • Sharpei,
  • Shar-pei,
  • Sharpei
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories





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