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Bmp10b2b2711Clo
Chemically induced Allele Detail
Summary
Symbol: Bmp10b2b2711Clo
Name: bone morphogenetic protein 10; Bench to Bassinet Program (B2B/CVDC), mutation 2711 Cecilia Lo
MGI ID: MGI:5616117
Gene: Bmp10  Location: Chr6:87405976-87411494 bp, + strand  Genetic Position: Chr6, 37.96 cM, cytoband D2
Alliance: Bmp10b2b2711Clo page
Mutant (E16.5) exhibits a hypoplastic thymus.

Show the 10 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 mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 328 in exon 1 of the cDNA (c.328A>G, NM_009756). This changes the asparagine residue to aspartic acid at position 110 of the encoded protein (p.N110D). (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: 2 anatomical structure(s)
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 Bmp10 Mutation:  23 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) - Tetralogy of Fallot type DORV, subaortic ventricular septal defect (VSD), and hypoplastic pulmonary artery.

Noncardiovascular phenotype: Petechiae, hypoplastic thymus, curly tail, and cystic kidneys with tubule dilations.

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
1050 Tetralogy of Fallot
2966 Hypoplastic Main Pulmonary Artery
4508 Polycystic kidney disease
4906 Non-cardiac abnormality
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
11/12/2024
MGI 6.24
The Jackson Laboratory