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Allele : b2b1702Clo Mutant line 1702, Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 1702 Cecilia Lo
Primary Identifier  MGI:5696518 Allele Type  Chemically induced (ENU)
Gene  b2b1702Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
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


Mutant Type 2:
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

Phenotypic Similarity to Human Syndrome:
Mutant Type 1:
Heterotaxy


Mutant Type 2:
Carpenter's syndrome



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. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See Cml5b2b1702.1Clo and Megf8b2b1702.2Clo
  • 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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Trail: Allele




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