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b2b1163Clo
Chemically induced Allele Detail
Summary
Symbol: b2b1163Clo
Name: Mutant line 1163; Bench to Bassinet Program (B2B/CVDC), mutation 1163 Cecilia Lo
MGI ID: MGI:5433408
Synonyms: Goober
Gene: b2b1163Clo  Location: unknown  
Alliance: b2b1163Clo page
Mutant 1163-006-NA displays malpositioned heart with interrupted aorta and DORV (confirmed by EFIC imaging)

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 details: This ENU-induced mutation 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 b2b1163.1Clo and b2b1163.2Clo Additional incidental mutations were detected in sequencing for the causative mutation, b2b1163Clo, and may be present in stocks carrying this mutation.
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1  Disease Model
b2b1163Clo/b2b1163Clo
C57BL/6J-b2b1163Clo
 
Phenotypes:
Affected Systems
hm1
show or hide all annotated terms
 
cardiovascular system
√
interrupted aortic arch
√
heart left ventricle hypertrophy
√
heart right ventricle hypertrophy
√
double outlet right ventricle
√
atrioventricular septal defect
√
heart right ventricle hypoplasia
√
growth/size/body
√
heart left ventricle hypertrophy
√
heart right ventricle hypertrophy
√
polycystic kidney
√
heterotaxia
√
muscle
√
heart left ventricle hypertrophy
√
heart right ventricle hypertrophy
√
renal/urinary system
√
polycystic kidney
√
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
√ disease model   expected model not found
Models:
Human Diseases
hm1
IDs
 √
IDs
 √
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
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 b2b1163Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1: Cardiac defects: Congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with interrupted aortic arch, atrioventricular septal defect (AVSD), and hypoplastic right ventricle (RV)
Noncardiac defects: Highly cystic kidneys with tubule cysts
Mutant Type 2: Cardiac defects: Ventricular hypertrophy

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
1100 Atrioventricular canal (endocardial cushion defect)
1821 Hypoplastic right ventricle (subnormal cavity volume)
0190 Heterotaxy Syndrome
3804 Congenital heart disease
3950 {S,D,D}
4508 Polycystic kidney disease
0600 Double outlet right ventricle
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy

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:  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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Funding Information
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory