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Evlb2b2600Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Evlb2b2600Clo
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
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 detailsThis 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, Evlb2b2600Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  26 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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory