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Allele : Prickle1<b2b019Clo> prickle planar cell polarity protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 019 Cecilia Lo
Primary Identifier  MGI:5297388 Allele Type  Chemically induced (ENU)
Gene  Prickle1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis
Cardiovascular defects: Double outlet right ventricle (DORV) and ventricular septal defect (VSD).
Non-cardiovascular defects: Cleft palate, Microcephaly, Micrognathia

Phenotypic Similarity to Human Syndrome: Velocardiofacial syndrome

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
0600 Double outlet right ventricle
0602 DORV, ventricular defect committed to aorta
1310 Ventricular septal defect, membranous
3804 Congenital heart disease
4163 Micrognathia
4609 Velocardiofacial syndrome
4876 Cleft palate

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to T substitution at coding nucleotide 482 in exon 5 of the cDNA (c.482G>T, NM_001033217). This changes the cysteine residue to phenylalanine at position 161 of the encoded protein (p.C161F).
  • mutations:
  • Single point mutation
  • synonyms:
  • Beetlejuice,
  • Bj,
  • c.G482T,
  • Bj,
  • p.C161F,
  • p.C161F,
  • c.G482T,
  • Beetlejuice
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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

7 Publication categories





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