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b2b635Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b635Clo
Name: Mutant line 635; Bench to Bassinet Program (B2B/CVDC), mutation 635 Cecilia Lo
MGI ID: MGI:5311367
Synonyms: Ohia
Gene: b2b635Clo  Location: unknown  
Mutant 635-004-NA exhibits hypoplastic left ventricle and ascending arch hypoplasia, which was diagnosed as HLHS by EFIC imaging

Show the 16 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:    Undefined
 
Mutation detailsThis ENU-induced phenotypic deviant was isolated in a screen at the University of Pittsburgh and point mutations were found in Nadsyn1, Pepd, Exco1, Pcdha9, and Sap130, of which the point mutations in Pcdha9 and Sap130 were found to cause the phenotype of hypoplastic left heart syndrome. See Pcdha9b2b635.1Clo and Sap130b2b635.2Clo. (J:242757) Additional incidental mutations were detected in sequencing for the causative mutation, b2b635Clo, and may be present in stocks carrying this mutation.
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: 10 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any b2b635Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiovascular defects: Hypoplastic left ventricle, hypoplastic aortic valve and mitral valve, ascending aorta hypoplasia.
Non-cardiovascular defects: Micrognathia and kinked 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
0300 Hypoplastic left heart syndrome
1400 Aortic valve abnormality
1515 Hypoplastic mitral valve
1811 Hypoplastic left ventricle (subnormal cavity volume)
2703 Hypoplasia ascending aorta
4163 Micrognathia

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). 2011-15;
All:  4 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
11/12/2019
MGI 6.14
The Jackson Laboratory