Dnah11^b2b1727Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^b2b1727Clo
• Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1727, Cecilia Lo
• MGI ID: MGI:5437727
• Synonyms: Mickey
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^b2b1727Clo page

Mutant 1727-002-LA displays heterotaxy indicated by dextrocardia with lung lobation and levogastria

Show the 15 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 causitive molecular lesion for the cardiovascular phenotypes is a T to C substitution in the +2 position after coding nucleotide 1137 of the cDNA (c.1137+2T>C, NM_010060) in intron 6 of the gene. This changes the splice donor site from G-GT to G-GC (which is assumed to be less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11^b2b1727Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Dnah11 Mutation: 217 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Complex congenital heart disease associated with heterotaxy such as levocardia/dextrocardia, double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), atrioventricular septal defect (AVSD), right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis, as well as abnormal thoracic and abdominal organ situs anomalies, such as hypoplastic/abnormal spleen. Also observed was immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis

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
0602	DORV, ventricular defect committed to aorta
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
2700	Abnormal aortic arch
2720	Right aortic arch
3804	Congenital heart disease
3816	Abdominal situs inversus
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3950	{S,D,D}
3974	{I,L,I}
4502	Hydronephrosis
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic 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)