Dnai1^b2b1526Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnai1^b2b1526Clo
• 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
• Alliance: Dnai1^b2b1526Clo page

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.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This 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, Dnai1^b2b1526Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

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: 47 strains or lines available

Notes

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

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)