Dvl3^b2b2866Clo
Chemically induced Allele Detail

Summary

• Symbol: Dvl3^b2b2866Clo
• Name: dishevelled segment polarity protein 3; Bench to Bassinet Program (B2B/CVDC), mutation 2866 Cecilia Lo
• MGI ID: MGI:5618437
• Gene: Dvl3 Location: Chr16:20335732-20352760 bp, + strand Genetic Position: Chr16, 12.46 cM
• Alliance: Dvl3^b2b2866Clo page

Mutant (E14.5) presents with malaligned outflow tracts, later diagnosed as double outlet right ventricle (DORV) by ECM histopathology.

Show the 16 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: Undefined
• 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 coding nucleotide 1412 in exon 13 of the cDNA (c.1412T>A, NM_007889). This changes the leucine residue to glutamine at position 471 of the encoded protein (p.L471Q). (J:175213)

Expression

In Structures Affected by this Mutation:

5 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 Dvl3 Mutation: 38 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), cushion like semilunar valves.

Noncardiovascular phenotype: Micrognathia, short snout, enopthalmia, hypoplastic thymus, hydronephrosis and moderate cystic kidney.

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
0602	DORV, ventricular defect committed to aorta
4163	Micrognathia
4502	Hydronephrosis
4906	Non-cardiac 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)