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Dnah11b2b1279Clo
Chemically induced Allele Detail
Summary
Symbol: Dnah11b2b1279Clo
Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1279, Cecilia Lo
MGI ID: MGI:5311393
Gene: Dnah11  Location: Chr12:117841717-118162778 bp, - strand  Genetic Position: Chr12, 63.25 cM
Alliance: Dnah11b2b1279Clo page
Mutant 1279-006-1 (E16.5) shows malalignment of the great arteries, which is diagnosed as D-TGA by EFIC imaging

Show the 16 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 an A to T substitution at coding nucleotide position 10369 in exon 64 of the cDNA (c.10369A>T, NM_010060). This changes the isoleucine residue to phenylalanine at position 3457 of the encoded protein (p.I3457F). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b1279Clo, 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: 7 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 presenting with spectrum of congenital heart disease, including dextrocardia, transposition of the great arteries (d-TGA), double outlet right ventricle (DORV) with atrioventricular (AVSD) ventricular septal defects (VSD), mitral valve atresia, and ventricular non-compaction
Noncardiovascular phenotype: Situs inversus totalis and abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, hypoplastic spleen, left lung isomerism, and malaligned sternal vertebra. Also observed was micrognathia and airway cilia showing a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility.

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
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1508 Mitral valve abnormality
1802 Excessive myocardial trabeculation or noncompaction
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4239 Left bronchial isomerism
4906 Non-cardiac abnormality

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