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Allele : b2b2362Clo Mutant line 2362; Bench to Bassinet Program (B2B/CVDC), mutation 2362 Cecilia Lo
Primary Identifier  MGI:5560155 Allele Type  Chemically induced (ENU)
Gene  b2b2362Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts
Mutant Type 2:
Cardiovascular Phenotype: Biventricular hypertrophy
Noncardiovascular Phenotype: Craniofacial defect including facial cleft/cleft lip, short snout, micrognathia, and dome shaped head

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
0170 Ectopia cordis
0606 DORV + AVSD (AV canal)
0610 DORV, Taussig bing
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
4414 Gastroschisis
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4163 Micrognathia
4875 Cleft lip
7505 Biventricular hypertrophy

molecularNote  This ENU-induced mutation line 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 Slit3b2b2362.1Clo and b2b2362.2Clo
  • mutations:
  • Undefined,
  • Single point mutation
  • synonyms:
  • Tell-Tale,
  • Tell-Tale
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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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