About   Help   FAQ
Megf8b2b1702.2Clo
Chemically induced Allele Detail
Summary
Symbol: Megf8b2b1702.2Clo
Name: multiple EGF-like-domains 8; Bench to Bassinet Program (B2B/CVDC), mutation 1702, subline 2 Cecilia Lo
MGI ID: MGI:5437080
Synonyms: TLC
Gene: Megf8  Location: Chr7:25016589-25065342 bp, + strand  Genetic Position: Chr7, 13.75 cM
Alliance: Megf8b2b1702.2Clo page
Mutant 1702-007-1 (E16.5) exhibits dextrocardia and displaced outflow tracts, later diagnosed as Taussig-Bing type double outlet right ventricle (DORV) by ECM histopathology.

Show the 7 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 detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1702Clo. The molecular lesion for this subline is an A to G single point mutation at coding nucleotide 442 in exon 3 of the cDNA (c.442A>G, NM_001160400). This changes the asparagine residue to aspartic acid at position 148 of the encoded protein (p.N148D). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Megf8b2b1702.2Clo, and may be present in stocks carrying this mutation.
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 10 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 Megf8 Mutation:  97 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}).

Noncardiovascular phenotype: anophthalmia, short snout, micrognathia, cleft palate

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
602 DORV, ventricular defect committed to aorta
110 Dextrocardia
1100 Atrioventricular canal (endocardial cushion defect)
1320 Ventricular septal defect, muscular
190 Heterotaxy Syndrome
2230 Coronary fistula (arterio-venous or arterio-cameral)
3804 Congenital heart disease
4404 Omphalocele
600 Double outlet right ventricle
610 DORV, Taussig bing

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)

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory