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Dnah11b2b2349Clo
Chemically induced Allele Detail
Summary
Symbol: Dnah11b2b2349Clo
Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 2349, Cecilia Lo
MGI ID: MGI:5491272
Synonyms: CrissCross
Gene: Dnah11  Location: Chr12:117841717-118162778 bp, - strand  Genetic Position: Chr12, 63.25 cM
Alliance: Dnah11b2b2349Clo page
Mutant 2249-002-LA exhibits situs inversus totalis with dextrocardia, inverted outflow, inverted lung and liver lobation, and dextrogastria

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:    Single point mutation
 
Mutation detailsThis 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b2349Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 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
Notes
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

References
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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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory