Dnah11^b2b1203Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^b2b1203Clo
• Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1203, Cecilia Lo
• MGI ID: MGI:5311388
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^b2b1203Clo page

Mutant 1203-005-LA exhibits heterotaxy with dextrocardia, inverted lung lobation, inverted liver lobation, and left-sided stomach

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 C to T substitution at coding nucleotide position 2755 in exon 63 of the cDNA (c.10243C>T, NM_010060). This changes the glutamine residue to a stop codon at position 3415 of the encoded protein (p.Q3415*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11^b2b1203Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 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: Situs inversus totalis and heterotaxy with congenital heart disease, such as dextrocardia, dual inferior vena cava (IVC), and right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, inverted lung lobation, and inverted liver lobation. Also observed were duplex kidneys with kidney cysts. Tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat

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
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4512	Renal malformation
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)