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b2b1468Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b1468Clo
Name: Mutant line 1468, Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 1468 Cecilia Lo
MGI ID: MGI:5696350
Synonyms: Hunchback
Gene: b2b1468Clo  Location: unknown  
Mutant 1468-003-4 (E15.5) displays right aortic arch, hypoplastic transverse arch, and malpositioning of the great arteries which is diagnosed as double outlet right ventricle (DORV) by ECM histopathology.

Show the 16 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:    Nucleotide substitutions
 
Mutation detailsThis 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 Cntrlb2b1468.1Clo and Dnah11b2b1468.2Clo. (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 12 anatomical structures
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 b2b1468Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)

Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis


Mutant Type 2:
Cardiovascular phenotypes: Situs inversus with mirror image dextrocardia

Noncardiovascular phenotype: Immotile cilia in the tracheal airway epithelia

Phenotypic Similarity to Human Syndrome:
Mutant Type 1:
Nephronophthisis


Mutant Type 2:
Primary ciliary dyskinesia

Kartagener's syndrome



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
600 Double outlet right ventricle
1300 Ventricular septal defect
1821 Hypoplastic right ventricle (subnormal cavity volume)
2050 Atrial septal defect
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). 2011-15;
All:  1 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
08/09/2022
MGI 6.21
The Jackson Laboratory