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Allele : Dnah11<b2b1775Clo> dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1775, Cecilia Lo
Primary Identifier  MGI:5446158 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: Dextrocardia associated with heterotaxy, duplicated IVC, inverted hemiazygous connection, double outlet right ventricle (DORV), subaortic ventricular septal defect (VSD)
Noncardiovascular phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations with dextrogastria, malaligned sternal vertebra and hypoplastic spleen. Also observed were gut malrotation, possible biliary obstruction, as well as dyskinetic and hyperkinetic airway cilia

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
1300 Ventricular septal defect
2810 Inferior vena cava anomaly
2811 Absence of the suprarenal inferior vena cava with azygous continuation
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4400 Gastrointestinal anomaly
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 the +2 position after coding nucleotide 6489 of the cDNA (c.6489+2T>C, NM_010060) in intron 39. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient).
  • mutations:
  • Insertion
  • synonyms:
  • Dnahc11<c.6489+2T>,
  • Dnahc11<c.6489+2T>,
  • Blindfold,
  • Blindfold
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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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