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Allele : Lrp2<b2b2671Clo> low density lipoprotein receptor-related protein 2; Bench to Bassinet Program (B2B/CVDC), mutation 2671 Cecilia Lo
Primary Identifier  MGI:5560499 Allele Type  Chemically induced (ENU)
Gene  Lrp2 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Persistent truncus arteriosis (PTA, Type A1, A2, A4), permembranous ventricular septal defects (pmVSD) and muscular ventricular septal defect (mVSD), right aortic arch (RAA), ventricular non-compaction, ventricular hypertrophy
Noncardiovascular Phenotype: Short snout, anophthalmia/microphthalmia, short snount/micrognathia, hypoplastic thymus, incomplete closure of the umbilical herniation, cystic kidneys, hydrnephrosis, hooked tail

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
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1802 Excessive myocardial trabeculation or noncompaction
2700 Abnormal aortic arch
2720 Right aortic arch
4163 Micrognathia
4502 Hydronephrosis
4864 Anophthalmia
4877 Microphthalmia
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
7505 Biventricular hypertrophy

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 6612 in exon 39 of the cDNA (c.6612T>A, NM_001033385). This changes the tyrosine residue to a translation stop at position 2204 of the encoded protein (p.Y2204*).
  • mutations:
  • Single point mutation
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