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Allele : Amn<b2b2259Clo> amnionless; Bench to Bassinet Program (B2B/CVDC), mutation 2259 Cecilia Lo
Primary Identifier  MGI:5614775 Allele Type  Chemically induced (ENU)
Gene  Amn Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic VSD, hypoplastic pulmonary artery, right aortic arch, aberrant left subclavian artery forming incomplete vascular ring, ventricular noncompaction, biventricular hypertrophy.

Non-cardiac phenotype: Micropthalmia, malalignmed sternum

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 + AVSD (AV canal)
1610 Atrioventricular canal (endocardial cushion defect)
1802 Common atrium
2720 Ventricular septal defect
2730 Excessive myocardial trabeculation or noncompaction
2760 Coronary fistula (arterio-venous or arterio-cameral)
4100 Inferior vena cava anomaly
4877 Abdominal situs ambiguous (abdominal heterotaxy)

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 1370 in exon 12 of the cDNA (c.1370A>G, NM_033603). This changes the glutamic acid residue to glycine at position 457 of the encoded protein (p.E457G).
  • mutations:
  • Single point mutation
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Trail: Allele

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Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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