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Allele : Dnah5<b2b002Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 002 Cecilia Lo
Primary Identifier  MGI:5294340 Allele Type  Chemically induced (ENU)
Gene  Dnah5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis
Cardiovascular defects:Situs inversus totalis and heterotaxy with congenital heart disease such as dextrocardia, double outlet right ventricle (DORV), transposition of the great arteries (TGA), ventricular (VSD), atrial (ASD), and atrioventricular septal defect (AVSD), and superior-inferior ventricles.
Non-cardiovascular defects: Abnormal thoracic and abdominal organ situs anomalies, such as malalignment of sternal vertebrae, right pulmonary isomerism, hypoplastic spleen, as well as inverted liver and lung. Also observed were kidney defects such as duplex, cystic, and hydronephrotic. 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
0159 Biventricular, discordant atrioventricular connection
0160 Biventricular, ambiguous atrioventricular connection
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1170 Common AV valve
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4240 Right bronchial isomerism
4502 Hydronephrosis
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 13169 in exon 76 of the cDNA (c.13169T>C, NM_133365). This changes the leucine residue to proline at position 4390 of the encoded protein (p.L4390P).
  • mutations:
  • Single point mutation
  • synonyms:
  • Scar,
  • Scaramanga,
  • Scaramanga,
  • Scar
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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