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b2b2153Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2153Clo
Name: Mutant line 2153; Bench to Bassinet Program (B2B/CVDC), mutation 2153 Cecilia Lo
MGI ID: MGI:5491242
Synonyms: Whippit
Gene: b2b2153Clo  Location: unknown  
Mutant 2153-001-NB exhibits DORV and hypertrophy

Show the 28 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 b2b2153.1Clo and b2b2153.2Clo.
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: 7 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 b2b2153Clo 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), and ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects.

Mutant Type 2:
Cardiovascular phenotype: Biventricular hypertrophy
Noncardiovascular phenotype: Curly tail, low set ears, cleft palate, and micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia

Phenotypic Similarity to Human Syndrome: Cardiac hypertrophy (Cardiomyopathy)

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
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy
0600 Double outlet right ventricle
1300 Ventricular septal defect
4864 Anophthalmia
4876 Cleft palate
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
04/06/2021
MGI 6.16
The Jackson Laboratory