Prdm1^b2b1765Clo
Chemically induced Allele Detail

Summary

• Symbol: Prdm1^b2b1765Clo
• Name: PR domain containing 1, with ZNF domain; Bench to Bassinet Program (B2B/CVDC), mutation 1765 Cecilia Lo
• MGI ID: MGI:5446157
• Synonyms: Jigsaw
• Gene: Prdm1 Location: Chr10:44313173-44404497 bp, - strand Genetic Position: Chr10, 23.24 cM
• Alliance: Prdm1^b2b1765Clo page

Mutant 1765-005-6 (E15.5) exhibits a hypoplastic LV and hypoplastic aortic arch.

Show the 13 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 an A to G substitution at coding nucleotide 1625 of the cDNA (c.1625A>G, NM_007548). This changes the aspartic acid residue to glycine at position 542 of the encoded protein (p.D542G). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Prdm1^b2b1765Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

3 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 Prdm1 Mutation: 64 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), aortic arch anomalies including right aortic arch (RAA) and/or aberrant left subclavian artery, vascular ring, and aortic valve atresia

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
1100	Atrioventricular canal (endocardial cushion defect)
1400	Aortic valve abnormality
2720	Right aortic arch
2730	Aberrant left subclavian artery
2760	Vascular ring

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: 3 reference(s)