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b2b2187Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2187Clo
Name: Mutant line 2187; Bench to Bassinet Program (B2B/CVDC), mutation 2187 Cecilia Lo
MGI ID: MGI:5491256
Synonyms: Delia
Gene: b2b2187Clo  Location: unknown  
Mutant 2187-004-NC has a hypoplastic aorta and pulmonary stenosis as well as DORV and biventricular hypertrophy that was confirmed by EFIC imaging

Show the 33 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 line was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b2187.1Clo and b2b2187.2Clo (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 13 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 b2b2187Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), overriding aorta with perimembranous ventricular septal defect (pmVSD), valvular dysplasia (atrioventricular valve and semilunar valve), pulmonary stenosis, and biventricular hypertrophy
Noncardiovascular phenotype: Hydrops, short snout, micrognathia, cleft palate, hydronephrosis, cystic kidneys, unfused sternum, abnormal flexure of the hindlimbs, hypoplastic thymus

Mutant Type 2:
Cardiovascular phenotype: Ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defects including microphthalmia, cleft palate, and micrognathia

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
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4163 Micrognathia
4876 Cleft palate
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy
0600 Double outlet right ventricle
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
1610 Pulmonary stenosis
4100 Skeletal, skin, muscle anomaly
4502 Hydronephrosis
4877 Microphthalmia

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:  2 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
11/23/2021
MGI 6.17
The Jackson Laboratory