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Allele : Bmpr2<b2b2556Clo> bone morphogenetic protein receptor type 2; Bench to Bassinet Program (B2B/CVDC) mutation 2556, Cecilia Lo
Primary Identifier  MGI:5560496 Allele Type  Chemically induced (ENU)
Gene  Bmpr2 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Persistent truncus arteriosus (PTA, Typa 1 and Type A4), atrioventricular septal defect (AVSD), muscular ventricular septal defect (VSD), ventricular non-compaction, absent semilunar valves
Noncardiovascular Phenotype: Hydronephrosis

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
0500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
1802 Excessive myocardial trabeculation or noncompaction
4502 Hydronephrosis
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +2 after coding nucleotide 852 (c.852+2T>C, NM_007561) in intron 6, changing splice donor site T-GT to T-GC (which is assumed to be less efficient).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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1 Carried By

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4 Publication categories





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