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Allele : Megf8<b2b1702.2Clo> multiple EGF-like-domains 8; Bench to Bassinet Program (B2B/CVDC), mutation 1702, subline 2 Cecilia Lo
Primary Identifier  MGI:5437080 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 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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • TLC,
  • TLC
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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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