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Allele : b2b370Clo Mutant line 370; Bench to Bassinet Program (B2B/CVDC), mutation 370 Cecilia Lo
Primary Identifier  MGI:5311366 Allele Type  Chemically induced (ENU)
Gene  b2b370Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Different mutations causing two independently segregating phenotypes:
Mutant 1: Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries. Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly
Mutant 2 (Lox gene mutation): Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia

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
1430 Aortic stenosis - supravalvar
1617 Pulmonary stenosis, bilateral branch pulmonary artery
2600 Systemic artery anomaly
2700 Abnormal aortic arch
2721 Right aortic arch with abnormal branching pattern
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
3804 Congenital heart disease
4031 Williams sydrome
4163 Micrognathia
4874 Mouth malformation
4907 Non-cardiac thoracic abnormality

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 b2b370.1Clo and Loxb2b370.2Clo
  • synonyms:
  • Kitty,
  • Kitty
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