Megf8^b2b288Clo
Chemically induced Allele Detail

Summary

• Symbol: Megf8^b2b288Clo
• Name: multiple EGF-like-domains 8; Bench to Bassinet Program (B2B/CVDC), mutation 288 Cecilia Lo
• MGI ID: MGI:5311364
• Synonyms: M8, Megf8^c.A3641T
• Gene: Megf8 Location: Chr7:25016589-25065342 bp, + strand Genetic Position: Chr7, 13.75 cM
• Alliance: Megf8^b2b288Clo page

Dextrocardia

Show the 10 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.The causitive molecular lesion for the cardiovascular phenotypes is an A to T substitution at coding nucleotide 3641 in exon 21 of the cDNA (c.3641A>T, NM_001160400). This changes the asparagine residue to isoleucine at position 1214 in the encoded protein (p.N1214I). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Megf8^b2b288Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 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 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

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

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)