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Allele : Psme4<b2b1508Clo> proteasome (prosome, macropain) activator subunit 4; Bench to Bassinet Program (B2B/CVDC), mutation 1508 Cecilia Lo
Primary Identifier  MGI:5437081 Allele Type  Chemically induced (ENU)
Gene  Psme4 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiac phenotype: Congenital heart diseases associated with heterotaxy including dextrocardia/mesocardia, transposition of great artery (TGA) with tricuspid atresia, Taussig-Bing type double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular VSD, right sided aortic arch (RAA) and aortic arch anomalies, duplicated inferior vena cava (IVC)
Noncardiac phenotype: Thymus hypoplasia, right pulmonary isomerism, midline liver
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
0190 Heterotaxy Syndrome
0400 Tricuspid atresia
0610 DORV, Taussig bing
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
3804 Congenital heart disease
3950 {S,D,D}
3951 {S,D,L}
3988 {A,L,L}

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 3247 in exon 28 of the cDNA (NM_134013:c.A3247G). This changes the isoleucine residue to valine at position 1083 of the encoded protein (p.I1083V).
  • mutations:
  • Single point mutation
  • synonyms:
  • Oscar,
  • Oscar
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

0 Driven By

4 Publication categories





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