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Allele : b2b2153Clo Mutant line 2153; Bench to Bassinet Program (B2B/CVDC), mutation 2153 Cecilia Lo

Primary Identifier  MGI:5491242 Allele Type  Chemically induced (ENU)
Gene  b2b2153Clo 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 (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects.

Mutant Type 2:
Cardiovascular phenotype: Biventricular hypertrophy
Noncardiovascular phenotype: Curly tail, low set ears, cleft palate, and micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia

Phenotypic Similarity to Human Syndrome: Cardiac hypertrophy (Cardiomyopathy)

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
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4163 Micrognathia
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy
0600 Double outlet right ventricle
1300 Ventricular septal defect
4864 Anophthalmia
4876 Cleft palate
4877 Microphthalmia

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 b2b2153.1Clo and b2b2153.2Clo.
  • mutations:
  • Undefined
  • synonyms:
  • Whippit,
  • Whippit
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele