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Allele : Mapk7<b2b2346Clo> mitogen-activated protein kinase 7; Bench to Bassinet Program (B2B/CVDC), mutation 2346 Cecilia Lo
Primary Identifier  MGI:5554435 Allele Type  Chemically induced (ENU)
Gene  Mapk7 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricles (DORV) with subaortic VSD or atrioventricular septal defects (AVSD), muscular VSD, and ventricular non-compaction
Noncardiovascular phenotype: hydronephrosis and cystic kidney

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
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
4502 Hydronephrosis

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a A to G substitution at coding nucleotide 1801 in exon 5 of the cDNA (c.1801A>G, NM_011841). This changes the threonine residue to alanine at position 601 of the encoded protein (p.T601A).
  • mutations:
  • Undefined
  • synonyms:
  • Smiley,
  • Smiley
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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