Prickle1^b2b019Clo
Chemically induced Allele Detail

Summary

• Symbol: Prickle1^b2b019Clo
• 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: Prickle1^b2b019Clo 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 details: 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Prickle1^b2b019Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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: 34 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)