Dnah5^b2b2925Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnah5^b2b2925Clo
• Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2925 Cecilia Lo
• MGI ID: MGI:5618818
• Gene: Dnah5 Location: Chr15:28203898-28472198 bp, + strand Genetic Position: Chr15, 10.9 cM
• Alliance: Dnah5^b2b2925Clo page

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 A substitution at nucleotide +2 after coding nucleotide 2259 (c.2259+2T>A, NM_133365) in intron 15. This changes splice donor site G-GT to G-GA (which is assumed to be inactive). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

7 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: Complex congenital heart disease associated with heterotaxy including mesocardia, dextroversion, double outlet right ventricle, atrioventricular septal defect (AVSD), right aortic arch and interrupted aortic arch (type-B), aberrant right subclavian artery, bilateral inferior vena cava (IVC), intracardiac total anomalous pulmonary venous return (TAPVR), common atrium, and hypoplastic right ventricle.

Noncardiovascular phenotype: Visceral organ situs anomalies, including situs inversus, dextrogastria,left lung isomerism, asplenia, immotile respiratory tracheal 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
140	Mesocardia
900	Totally anomalous pulmonary venous return
100	Situs inversus totalis
110	Dextrocardia
1140	Common atrium
1821	Hypoplastic right ventricle (subnormal cavity volume)
190	Heterotaxy Syndrome
2731	Aberrant right subclavian artery
3816	Abdominal situs inversus
4239	Left bronchial isomerism
4771	Asplenia
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
606	DORV + AVSD (AV canal)

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)