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Allele : Dnah11<b2b1727Clo> dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1727, Cecilia Lo
Primary Identifier  MGI:5437727 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: Complex congenital heart disease associated with heterotaxy such as levocardia/dextrocardia, double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), atrioventricular septal defect (AVSD), right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis, as well as abnormal thoracic and abdominal organ situs anomalies, such as hypoplastic/abnormal spleen. Also observed was immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis

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
0602 DORV, ventricular defect committed to aorta
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
2700 Abnormal aortic arch
2720 Right aortic arch
3804 Congenital heart disease
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3950 {S,D,D}
3974 {I,L,I}
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 causitive molecular lesion for the cardiovascular phenotypes is a T to C substitution in the +2 position after coding nucleotide 1137 of the cDNA (c.1137+2T>C, NM_010060) in intron 6 of the gene. This changes the splice donor site from G-GT to G-GC (which is assumed to be less efficient).
  • mutations:
  • Single point mutation
  • synonyms:
  • Mickey,
  • Mickey
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Trail: Allele

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0 Mutation Involves

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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