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Allele : Wnt5a<b2b3077.1Clo> wingless-type MMTV integration site family, member 5A; Bench to Bassinet Program (B2B/CVDC), mutation 3077, subline 1 Cecilia Lo
Primary Identifier  MGI:5646613 Allele Type  Chemically induced (ENU)
Gene  Wnt5a Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with hypoplastic pulmonary artery, persistent truncus arteriosus (PTA), and atrioventricular septal defect (AVSD), small left ventricle (LV).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic lungs, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.

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 Codes Code Description
1811 Hypoplastic left ventricle (subnormal cavity volume)
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4401 Cleft palate and cleft lip
4512 Renal malformation
4875 Cleft lip
4876 Cleft palate
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
1100 Atrioventricular canal (endocardial cushion defect)
2966 Hypoplastic main pulmonary artery
500 Truncus arteriosus
600 Double outlet right ventricle
molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b3077Clo. The molecular lesion for this subline is a G to T substitution at coding nucleotide 670 in exon 4 of the cDNA (c.670G>T, NM_009524). This changes the glutamic acid residue to a translation stop at position 224 of the encoded protein (p.E224*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Po,
  • Po
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

5 Publication categories





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