Dnah11^b2b1289Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah11^b2b1289Clo
• Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC) mutation 1289, Cecilia Lo
• MGI ID: MGI:5437083
• Synonyms: Dnahc11^c.A5632G, Ghost
• Gene: Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
• Alliance: Dnah11^b2b1289Clo page

Mutant 1289-003-NA shows levocardia, right aortic arch and ambiguous lung lobation

Show the 14 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 an A to G substitution at coding nucleotide position 5632 in exon 33 of the cDNA (c.5632A>G, NM_010060). This changes the threonine residue to alanine at position 1878 of the encoded protein (p.T1878A). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11^b2b1289Clo, 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: Congenital heart defects associated with heterotaxy such as vascular sling with isolated left subclavian artery, right aortic arch (RAA), muscular vascular septal defect (VSD), and biventricular hypertrophy
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, midline liver, left pulmonary isomerism, polysplenia, hypoplastic spleen, and malaligned sternal vertebra. Also observed was anophthalmia/microphthalmia, and duplex, cystic, and hydronephrotic kidney with hydroureter

Phenotypic Similarity to Human Syndrome: Heterotaxy, Polysplenia syndrome (left isomerism), Primary Ciliary Dyskinesia (PCD)

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
0190	Heterotaxy Syndrome
0192	Polysplenia syndrome (left isomerism)
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
2700	Abnormal aortic arch
2720	Right aortic arch
2732	Isolation of the left subclavian artery
2760	Vascular ring
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4502	Hydronephrosis
4508	Polycystic kidney disease
4512	Renal malformation
4864	Anophthalmia
4877	Microphthalmia
7505	Biventricular hypertrophy

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)