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Chemically induced Allele Detail
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: Chr12:117841717-118162778 bp, - strand  Genetic Position: Chr12, 63.25 cM
Alliance: Dnah11b2b1775Clo page
Mutant 1775-005-LA displays dextrocardia, inverted lung lobe, malrotation of intestines

Show the 21 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Insertion
Mutation detailsThis 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b1775Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 8 anatomical structures
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:  139 strains or lines available
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

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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