Dnah5^b2b2570Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b2570Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2570 Cecilia Lo
• MGI ID: MGI:5614979
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b2570Clo page

Mutant exhibits situs inversus totalis with dextrocardia and dextrogastria.

Show the 7 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 C to T substitution at coding nucleotide 8374 in exon 50 of the cDNA (c.8374C>T, NM_133365). This changes the arginine residue to a translation stop at position 2792 of the encoded protein (p.R2792*). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dnah5 Mutation: 252 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Dextrocardia associated with situs inversus totalis and also complex congenital heart disease associated with heterotaxy.

Noncardiovascular phenotype: Visceral organ situs anomalies, tracheal epithelia exhibits immotile 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 Codes	Code Description
100	Situs inversus totalis
110	Dextrocardia
3816	Abdominal situs inversus
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

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)