Dnah5^b2b1003Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b1003Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1003 Cecilia Lo
• MGI ID: MGI:5297426
• Synonyms: Dnahc5^c.T5503C
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b1003Clo page

Mutant 1003-004-LA exhibits heterotaxy indicated by levocardia and dextrogastria

Show the 8 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 C substitution at coding nucleotide 5503 in exon 34 of the cDNA (c.5503T>C, NM_133365). This changes the tryptophan residue to arginine at position 1835 in the encoded protein (p.W1835R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5^b2b1003Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

1 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 defects: Complex congenital heart defects associated with heterotaxy
Non-cardiovascular defects: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria. Also observed were immotile airway cilia and kidney abnormalities

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
0190	Heterotaxy Syndrome
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4512	Renal malformation
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)