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Allele : b2b1291Clo Mutant line 1291; Bench to Bassinet Program (B2B/CVDC), mutation 1291 Cecilia Lo
Primary Identifier  MGI:5437085 Allele Type  Chemically induced (ENU)
Gene  b2b1291Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Heterotaxy with levocardia and dextrogastria
Noncardiovascular phenotype: Polycystic kidney disease

Mutant Type 2:
Polycystic kidney disease, duplex kidney and hydronephrosis

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy, Polycystic kidney disease
Mutant Type 2: Polycycstic kidney disease

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
0102 Levocardia
0190 Heterotaxy Syndrome
4502 Hydronephrosis
4508 Polycystic kidney disease

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 b2b1291.1Clo and b2b1291.2Clo.
  • synonyms:
  • Bloonie,
  • Bloonie
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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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0 Driven By

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Trail: Allele




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