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b2b1291Clo
Chemically induced Allele Detail
Summary
Symbol: b2b1291Clo
Name: Mutant line 1291; Bench to Bassinet Program (B2B/CVDC), mutation 1291 Cecilia Lo
MGI ID: MGI:5437085
Synonyms: Bloonie
Gene: b2b1291Clo  Location: unknown  
Alliance: b2b1291Clo page
Mutant 1291-006-LA exhibits heterotaxy with levocardia and dextrogastria

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 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 b2b1291.1Clo and b2b1291.2Clo. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1291Clo, 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: 3 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 b2b1291Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Heterotaxy with levocardia and dextrogastria
Noncardiovascular phenotype: Polycystic kidney disease

Mutant Type 2:
Polycystic kidney disease, duplex kidney and hydronephrosis

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy, Polycystic kidney disease
Mutant Type 2: Polycycstic kidney disease

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
0102 Levocardia
0190 Heterotaxy Syndrome
4502 Hydronephrosis
4508 Polycystic kidney disease

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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory