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Allele : Lrp1<b2b1554Clo> low density lipoprotein receptor-related protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 1554 Cecilia Lo
Primary Identifier  MGI:5437079 Allele Type  Chemically induced (ENU)
Gene  Lrp1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Outflow tract anomalies including pulmonary stenosis (PS) and persistent truncus arteriosus (PTA), atrioventricular septal defects (AVSD)
Noncardiac phenotype: Body wall closure defects - gastroschisis/celoschisis/omphalocele, diaphragmatic hernia

Phenotypic Similarity to Human Syndrome: Diaphragmatic hernia, gastroschisis, celoschisis, omphalocele

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)
1610 Pulmonary stenosis
3950 {S,D,D}
4404 Omphalocele
4414 Gastroschisis

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substituation at coding nucleotide 12694 in exon 82 of the cDNA (c.12694T>C, NM_008512). This changes the cysteine residue to arginine at position 4232 of the encoded protein (p.C4232R).
  • mutations:
  • Single point mutation
  • synonyms:
  • Marshmellow,
  • Marshmellow
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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