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Chemically induced Allele Detail
Symbol: Dnai1b2b1526Clo
Name: dynein axonemal intermediate chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 1526 Cecilia Lo
MGI ID: MGI:5317589
Synonyms: Spot
Gene: Dnai1  Location: Chr4:41569775-41638158 bp, + strand  Genetic Position: Chr4, 21.75 cM
Mutant 1526-007-NA exhibits heterotaxy with dextrocardia, dual IVC, left lung isomerism (2R/2L), stenotic transverse aortic arch, and thickened ventricular walls which is diagnosed as biventricular hypertrophy by EFIC imaging

Show the 12 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 C substitution at coding nucleotide 1565 in exon 16 of the cDNA (c.1565T>C, NM_175138). This changes the isoleucine residue to threonine at position 522 of the encoded protein (p.I522T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnai1b2b1526Clo, 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 Dnai1 Mutation:  34 strains or lines available
Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy with complex congenital heart disease such as dextrocardia, dual inferior vena cava (IVC), aortic arch stenosis, and biventricular hypertrophy
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, malaligned sternal vertebra, hypoplastic spleen, liver isomerism, and left lung isomerism. Also observed were micrognathia, short snout, and immotile tracheal 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
1410 Aortic stenosis
0190 Heterotaxy Syndrome
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4239 Left bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
7505 Biventricular hypertrophy

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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MGI 6.17
The Jackson Laboratory