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Dnah11b2b1775Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah11b2b1775Clo
Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC), mutation 1775 Cecilia Lo
MGI ID: MGI:5446158
Synonyms: Blindfold, Dnahc11c.6489+2T
Gene: Dnah11  Location: Chr12:117877982-118199043 bp, - strand  Genetic Position: Chr12, 63.25 cM
Mutant 1775-005-LA displays dextrocardia, inverted lung lobe, malrotation of intestines

Show the 13 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Insertion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dnah11 Mutation:  12 strains or lines available
Notes
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

Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia

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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory