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Allele : Nat8f5<b2b1702.1Clo> N-acetyltransferase 8 (GCN5-related) family member 5; Bench to Bassinet Program (B2B/CVDC), mutation 1702, subline 1 Cecilia Lo
Primary Identifier  MGI:5696519 Allele Type  Chemically induced (ENU)
Gene  Nat8f5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Congenital heart disease associated with with heterotaxy, including dextrocardia, double outlet right ventricle (DORV), Taussig-Bing type DORV, muscular VSD (mVSD), atrioventricular septal defects (AVSD), and coronary fistula

Noncardiovascular phenotype: Dextrogastria, right lung isomerism, omphalocele, gastroschisis

Phenotypic Similarity to Human Syndrome:
Heterotaxy



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 T substitution at coding nucleotide position 289 in exon 3 of the cDNA (c.289A>T, NM_023493). This changes the isoleucine residue to phenylalanine at position 97 in the encoded protein (p.I97F).
  • mutations:
  • Single point mutation
  • synonyms:
  • TLC,
  • TLC
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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