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Allele : b2b2738Clo Mutant line 2738; Bench to Bassinet Program (B2B/CVDC), mutation 2738 Cecilia Lo

Primary Identifier  MGI:5560909 Allele Type  Chemically induced (ENU)
Gene  b2b2738Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Aortic arch anomalies such as right aortic arch (RAA) and aberrant major artery branching from aorta, biventricular hypertrophy.
Noncardiovascular Phenotype: Oligodactyly, kinked tail, anophthalmia, short snout, agnathia, low set ears, and kidney agenesis. Chiari malformation seen in one mutant.

Phenotypic Similarity to Human Syndrome: Chiari malformation

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
2700 Abnormal aortic arch
2720 Right aortic arch
4100 Skeletal, skin, muscle anomaly
4170 Hand and/or foot anomaly
4333 Chiari malformation
4503 Agenesis of kidneys
4864 Anophthalmia
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.
  • mutations:
  • Undefined
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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

4 Publication categories

Trail: Allele