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Chemically induced Allele Detail
Symbol: Megf8b2b288Clo
Name: multiple EGF-like-domains 8; Bench to Bassinet Program (B2B/CVDC), mutation 288 Cecilia Lo
MGI ID: MGI:5311364
Synonyms: M8, Megf8c.A3641T
Gene: Megf8  Location: Chr7:25317164-25365917 bp, + strand  Genetic Position: Chr7, 13.75 cM

Show the 10 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a A to T single point mutation at postition 3641 of the cDNA (c.A3641T) (Ref seq NM_001160400). This is predicted to alter an arginine residue to an isoleucine at position 1214 (p.N1214I) in the encoded protein. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Megf8b2b288Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
Disease models
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:  39 strains or lines available
Summative Diagnosis:
Cardiovascular defects: Hetertoaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}).
Non-cardiac phenotype: Anopthalmia, short snout, micrognathia, Cleft palate

Phenotypic Similarity to Human Syndrome: Heterotaxy, Carpenter Syndrome

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
0190 Heterotaxy syndrome
0602 DORV, ventricular defect committed to aorta
0700 D-loop transposition of the great arteries
1120 Complete common atrioventricular canal
3804 Congenital heart disease
3950 {S,D,D}
3973 {I,L,L}
4846 Carpenter syndrome

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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.03
The Jackson Laboratory