b2b1511Clo Chemically induced Allele Detail MGI Mouse (MGI:5491228)

b2b1511Clo
Chemically induced Allele Detail

Summary

Symbol:	b2b1511Clo
Name:	Mutant line 1511; Bench to Bassinet Program (B2B/CVDC), mutation 1511 Cecilia Lo
MGI ID:	MGI:5491228
Synonyms:	Zazu
Gene:	b2b1511Clo Location: unknown
Alliance:	b2b1511Clo page

Mutant 1511-006-1 (E16.5) exhibits right aortic arch (RAA), pulmonary stenosis and malalignment of the great arteries, which was shown to be double outlet right ventricle (DORV) by histopathology

Show the 29 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 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 b2b1511.1Clo and b2b1511.2Clo. (J:175213)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

6 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 b2b1511Clo Mutation:	1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1: Cardiac Phenotype: Double outlet right ventricle (DORV), membranous and muscular ventricular septal defects (VSD)
Noncardiac Phenotype: Duplex kidney, kidney cysts, hydronephrosis, hydroureter, microphthalmia and other eye defects, facial cleft and cleft palate, polydactyly.
Mutant Type 2: Cardiac Phenotype: Biventricular hypertrophy
Noncardiac Phenotype: Anophthalmia, cleft palate

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
4876	Cleft palate
0600	Double outlet right ventricle
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
4103	Polydactyly
4502	Hydronephrosis
4877	Microphthalmia
4864	Anophthalmia
7505	Biventricular 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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