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Allele : b2b1468Clo Mutant line 1468, Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 1468 Cecilia Lo
Primary Identifier  MGI:5696350 Allele Type  Chemically induced (ENU)
Gene  b2b1468Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)

Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis


Mutant Type 2:
Cardiovascular phenotypes: Situs inversus with mirror image dextrocardia

Noncardiovascular phenotype: Immotile cilia in the tracheal airway epithelia

Phenotypic Similarity to Human Syndrome:
Mutant Type 1:
Nephronophthisis


Mutant Type 2:
Primary ciliary dyskinesia

Kartagener'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
600 Double outlet right ventricle
1300 Ventricular septal defect
1821 Hypoplastic right ventricle (subnormal cavity volume)
2050 Atrial septal defect
4502 Hydronephrosis
4508 Polycystic kidney disease

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 Cntrlb2b1468.1Clo and Dnah11b2b1468.2Clo.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Hunchback,
  • Hunchback
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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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