Megf8^b2b1702.2Clo
Chemically induced Allele Detail

Summary

• Symbol: Megf8^b2b1702.2Clo
• 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: Megf8^b2b1702.2Clo 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 details: This 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, Megf8^b2b1702.2Clo, and may be present in stocks carrying this mutation.

Disease models

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: 96 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)