Dnah5^b2b601Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b601Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 601 Cecilia Lo
• MGI ID: MGI:5311153
• Synonyms: Dnahc5^c.438+2T-A
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b601Clo page

Situs inversus totalis

Show the 10 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 +2 after coding nucleotide 438 (c.438+2T>A, NM_133365) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5^b2b601Clo, 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:
Cardiovascular defect: Situs inversus totalis and heterotaxy with abdominal situs ambigous and congenital heart disease: Dextrocardia with double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD).
Non-cardiovascular defect: Immotile airway cilia with outer dynein arm defect.

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
0140	Mesocardia
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
2720	Right aortic arch
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}

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)