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Allele : Pcsk5<b2b585Clo> proprotein convertase subtilisin/kexin type 5; Bench to Bassinet Program (B2B/CVDC), mutation 585 Cecilia Lo
Primary Identifier  MGI:5313702 Allele Type  Chemically induced (ENU)
Gene  Pcsk5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Mesocardia/dextrocardia, persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), double aortic arch (AA)
Non-cardiovascular defects: Tracheal agenesis with tracheoesophageal fistula (TEF), limb defects with syndactyly, kidney agenesis, supernumerary ribs, no tail.

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
0110 Dextrocardia
0140 Mesocardia
0500 Truncus arteriosus
0600 Double outlet right ventricle
2761 Double aortic arch
4044 VATERS/VACTERLS Syndrome
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4202 Tracheoesophageal fistula
4443 Anal atresia
4503 Agenesis of kidneys

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 521 in exon 4 of the cDNA (c.521A>G, NM_001163144). This changes the aspartic acid residue to glycine at position 174 of the encoded protein (p.D174G).
  • mutations:
  • Single point mutation
  • synonyms:
  • McRib,
  • McRib
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1 Feature

Trail: Allele

Genome

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0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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