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Allele : Gm572<b2b1167Clo> predicted gene 572; Bench to Bassinet Program (B2B/CVDC), mutation 1167 Cecilia Lo
Primary Identifier  MGI:5431499 Allele Type  Chemically induced (ENU)
Gene  Gm572 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Laterality defects consisting of situs inversus totalis and heterotaxy with complex congenital heart disease such as dextrocardia with double outlet right ventricle (DORV), atrioventricular canal defect (AVSD), and transposition of the great arteries (TGA)
Noncardiac phenotype: hypoplastic spleen, right pulmonary isomerism, mid-line liver, immotile airway cilia

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
0100 Situs inversus totalis
0110 Dextrocardia
0600 Double outlet right ventricle
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
190 Heterotaxy Syndrome
3804 Congenital heart disease
4240 Right bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 26 (c.26+1G>A, NM_001085505) in intron 1. This changes splice donor site G-GT to G-AT (which is assumed to be inactive).
  • mutations:
  • Single point mutation
  • synonyms:
  • Glow,
  • Glow,
  • Glow
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Trail: Allele

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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