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Prickle1b2b019Clo
Chemically induced Allele Detail
Summary
Symbol: Prickle1b2b019Clo
Name: prickle planar cell polarity protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 019 Cecilia Lo
MGI ID: MGI:5297388
Synonyms: Beetlejuice, Bj, c.G482T, p.C161F
Gene: Prickle1  Location: Chr15:93396995-93493772 bp, - strand  Genetic Position: Chr15, 47.69 cM
Alliance: Prickle1b2b019Clo page
EFIC imaging reveals DORV and VSD

Show the 10 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Prickle1b2b019Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Prickle1 Mutation:  28 strains or lines available
Notes
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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12;
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory