Evl^b2b2600Clo
Chemically induced Allele Detail

Summary

• Symbol: Evl^b2b2600Clo
• Name: Ena-vasodilator stimulated phosphoprotein; Bench to Bassinet Program (B2B/CVDC) mutation 2600, Cecilia Lo
• MGI ID: MGI:5560907
• Gene: Evl Location: Chr12:108520979-108654775 bp, + strand Genetic Position: Chr12, 59.46 cM, cytoband F2
• Alliance: Evl^b2b2600Clo page

Mutant 2600-005-1 (E16.5) exhibits abnormal arrangement of the great arteries and thin ventricular walls which is diagnosed as DORV and ventricular non-compaction by EFIC imaging

Show the 9 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 an A to G substitution at nucleotide +9 after coding nucleotide 1144 (c.1144+9A>G, NM_007965) in intron 12. This may affect splicing from the nearby splice donor site. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Evl^b2b2600Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

1 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 Evl Mutation: 48 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV), DORV with sub aortic VSD, atroventricular septal defects (AVSD).

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
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
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)