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Allele : Dnah11<b2b598Clo> dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 598, Cecilia Lo
Primary Identifier  MGI:5311372 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, dextrocardia with muscular ventricular septal defect (VSD), ventricular myocardial non-compaction.
Noncardiovascular phenotype: Situs inversus totalis as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left pulmonary isomerism, and malaligned sternal vertebra. Also observed were cystic kidneys and hydronephrosis. Airway cilia were hyperkinetic/dyskinetic

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
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
1802 Excessive myocardial trabeculation or noncompaction
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4502 Hydronephrosis
4508 Polycystic kidney disease

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 C to T substitution at coding nucleotide postition 3184 in exon 16 of the cDNA (c.3184C>T, NM_010060). This changes the glutamine residue to a stop codon at position 1062 in the encoded protein (p.Q1062*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Joplin,
  • Joplin
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