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Allele : Prdm1<b2b1765Clo> PR domain containing 1, with ZNF domain; Bench to Bassinet Program (B2B/CVDC), mutation 1765 Cecilia Lo
Primary Identifier  MGI:5446157 Allele Type  Chemically induced (ENU)
Gene  Prdm1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Jigsaw,
  • Jigsaw
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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Trail: Allele

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Trail: Allele




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