Dnah5^b2b1537Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b1537Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1537 Cecilia Lo
• MGI ID: MGI:5433326
• Synonyms: T-Rex
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b1537Clo page

Mutant 1537-002-LA displays dextrocardia with mirror symmetric lung and liver lobation

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 A substitution at nucleotide -10 before coding nucleotide 13330 (c.13330-10T>A, NM_133365) in intron 76. This may affect the nearby splice acceptor site. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5^b2b1537Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Dnah5 Mutation: 252 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Dextrocardia associated with situs inversus totalis and heterotaxy with dual inferior vena cava (IVC)
Noncardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies such as inverted liver and lung lobation. 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
2810	Inferior vena cava anomaly
3237	Bronchial situs inversus
3816	Abdominal situs inversus
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4851	Kartagener syndriewart 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)