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Allele : Megf8<b2b288Clo> multiple EGF-like-domains 8; Bench to Bassinet Program (B2B/CVDC), mutation 288 Cecilia Lo
Primary Identifier  MGI:5311364 Allele Type  Chemically induced (ENU)
Gene  Megf8 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Megf8<c.A3641T>,
  • M8,
  • Megf8<c.A3641T>,
  • M8
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories





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