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Prdm1b2b1765Clo
Chemically induced Allele Detail
Summary
Symbol: Prdm1b2b1765Clo
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: Prdm1b2b1765Clo 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 detailsThis 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, Prdm1b2b1765Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  66 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)

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
10/29/2024
MGI 6.24
The Jackson Laboratory