|  Help  |  About  |  Contact Us

Allele : Dnah11<b2b2349Clo> dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 2349, Cecilia Lo
Primary Identifier  MGI:5491272 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 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
Noncardiovascular phenotype: 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
159 Biventricular, discordant atrioventricular connection
160 Biventricular, ambiguous atrioventricular connection
184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
600 Double outlet right ventricle
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
700 D-loop transposition of the great arteries

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to G substitution at coding nucleotide position 6641 in exon 41 of the cDNA (c.6641T>G, NM_010060). This changes the leucine residue to arginine at position 2214 of the encoded protein (p.L2214R).
  • mutations:
  • Single point mutation
  • synonyms:
  • CrissCross,
  • CrissCross
Paste the following link
Quick Links:
SummaryGenomePhenotypeOther
 
Quick Links:
SummaryGenomePhenotypeOther
 
Lists
This Allele isn't in any lists. Upload a list.

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





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom