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Chemically induced Allele Detail
Symbol: Dnah5b2b1134Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1134 Cecilia Lo
MGI ID: MGI:5311385
Synonyms: Dnahc5c.G482T, Razzle
Gene: Dnah5  Location: Chr15:28203752-28472052 bp, + strand  Genetic Position: Chr15, 10.9 cM
Mutant 1134-007-MLC exhibits heterotaxy indicated by dextrocardia, lung lobation inversion, left liver isomerism and dextrogastria

Show the 10 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
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 7971 in exon 48 of the cDNA (c.7971T>G, NM_133365). This changes the asparagine residue to lysine at position 2657 of the encoded protein (p.N2657K). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b1134Clo, 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: 2 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 Dnah5 Mutation:  11 strains or lines available
Summative Diagnosis:
Cardioavascular phenotype: Heterotaxy presenting with dextrocardia
Noncardiovascular phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted lung lobation, hypoplastic spleen, and left liver isomerism. Also observed were immotile 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
3237 Bronchial situs inversus
3804 Congenital heart disease
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
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). 2011-15;
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
MGI 6.16
The Jackson Laboratory