Dnah11^b2b598Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^b2b598Clo
• Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 598, Cecilia Lo
• MGI ID: MGI:5311372
• Synonyms: Joplin
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^b2b598Clo page

Mutant 598-014-LV presents with situs inversus totalis including dextrocardia

Show the 25 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 causitive molecular lesion for the cardiovascular phenotypes is a C to T substitution at coding nucleotide postition 3184 in exon 16 of the cDNA (c.3184C>T, NM_010060). This changes the glutamine residue to a stop codon at position 1062 in the encoded protein (p.Q1062*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11^b2b598Clo, 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, dextrocardia with muscular ventricular septal defect (VSD), ventricular myocardial non-compaction.
Noncardiovascular phenotype: Situs inversus totalis as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left pulmonary isomerism, and malaligned sternal vertebra. Also observed were cystic kidneys and hydronephrosis. Airway cilia were hyperkinetic/dyskinetic

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
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
1802	Excessive myocardial trabeculation or noncompaction
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4502	Hydronephrosis
4508	Polycystic kidney disease

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)