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Dnah11b2b598Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah11b2b598Clo
Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC), mutation 598 Cecilia Lo
MGI ID: MGI:5311372
Synonyms: Joplin
Gene: Dnah11  Location: Chr12:117877982-118199043 bp, - strand  Genetic Position: Chr12, 63.25 cM
Mutant 598-014-LV presents with situs inversus totalis including dextrocardia

Show the 25 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 causitive molecular lesion for the cardiovascular phenotypes is a C to T single point mutation at postition 3184 of the cDNA (C3184T) (Ref seq NM_010060). This is predicted to alter an arginine residue to an isoleucine at position 1214 (p.Q1062X) in the encoded protein. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b598Clo, 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:  136 strains or lines available
Notes
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

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). 2011-15;
All:  2 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
09/11/2018
MGI 6.12
The Jackson Laboratory