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Wnt5ab2b3077.1Clo
Chemically induced Allele Detail
Summary
Symbol: Wnt5ab2b3077.1Clo
Name: wingless-type MMTV integration site family, member 5A; Bench to Bassinet Program (B2B/CVDC), mutation 3077, subline 1 Cecilia Lo
MGI ID: MGI:5646613
Synonyms: Po
Gene: Wnt5a  Location: Chr14:28226707-28249405 bp, + strand  Genetic Position: Chr14, 16.8 cM
Alliance: Wnt5ab2b3077.1Clo page
Mutant 3077-006-2 (E15.5) exhibits parallel outflow tracts, pulmonary stenosis, and small left atrium later diagnosed as double outlet right ventricle (DORV), hypoplastic pulmonary artery, and hypoplastic left atrium by ECM histopathology.

Show the 41 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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*). (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 15 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Wnt5a Mutation:  28 strains or lines available
Notes
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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/22/2022
MGI 6.22
The Jackson Laboratory