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Allele : Dnah11<b2b1279Clo> dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1279, Cecilia Lo

Primary Identifier  MGI:5311393 Allele Type  Chemically induced (ENU)
Gene  Dnah11 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy presenting with spectrum of congenital heart disease, including dextrocardia, transposition of the great arteries (d-TGA), double outlet right ventricle (DORV) with atrioventricular (AVSD) ventricular septal defects (VSD), mitral valve atresia, and ventricular non-compaction
Noncardiovascular phenotype: Situs inversus totalis and abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, hypoplastic spleen, left lung isomerism, and malaligned sternal vertebra. Also observed was micrognathia and airway cilia showing a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility.

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
0600 Double outlet right ventricle
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1508 Mitral valve abnormality
1802 Excessive myocardial trabeculation or noncompaction
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4239 Left bronchial isomerism
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to T substitution at coding nucleotide position 10369 in exon 64 of the cDNA (c.10369A>T, NM_010060). This changes the isoleucine residue to phenylalanine at position 3457 of the encoded protein (p.I3457F).
  • mutations:
  • Single point mutation
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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