Dnah11^b2b1775Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^b2b1775Clo
• Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1775, Cecilia Lo
• MGI ID: MGI:5446158
• Synonyms: Blindfold, Dnahc11^c.6489+2T
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^b2b1775Clo page

Mutant 1775-005-LA displays dextrocardia, inverted lung lobe, malrotation of intestines

Show the 21 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: Insertion
• 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 the +2 position after coding nucleotide 6489 of the cDNA (c.6489+2T>C, NM_010060) in intron 39. This changes splice donor site 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^b2b1775Clo, 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 Dnah11 Mutation: 217 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Dextrocardia associated with heterotaxy, duplicated IVC, inverted hemiazygous connection, double outlet right ventricle (DORV), subaortic ventricular septal defect (VSD)
Noncardiovascular phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations with dextrogastria, malaligned sternal vertebra and hypoplastic spleen. Also observed were gut malrotation, possible biliary obstruction, as well as dyskinetic and hyperkinetic 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
0600	Double outlet right ventricle
1300	Ventricular septal defect
2810	Inferior vena cava anomaly
2811	Absence of the suprarenal inferior vena cava with azygous continuation
3816	Abdominal situs inversus
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4400	Gastrointestinal anomaly
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)