b2b1200Clo Chemically induced Allele Detail MGI Mouse (MGI:5437101)

b2b1200Clo
Chemically induced Allele Detail

Summary

Symbol:	b2b1200Clo
Name:	Mutant line 1200; Bench to Bassinet Program (B2B/CVDC), mutation 1200 Cecilia Lo
MGI ID:	MGI:5437101
Synonyms:	Bruiser
Gene:	b2b1200Clo Location: unknown
Alliance:	b2b1200Clo page

Mutant 1200-003-NA shows dextroversion {S,D,S} with vascular ring

Show the 34 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 b2b1200.1Clo and b2b1200.2Clo. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1200Clo, and may be present in stocks carrying this mutation.

Phenotypes

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

Disease models

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 b2b1200Clo Mutation:	1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular defects: Heterotaxy with congenital heart disease such as dextroversion with hypoplastic right ventricle (RV), double outlet right ventricle (DORV), muscular and membranous ventricular septal defects, aortic arch anomalies including vascular ring
Non-cardiovascular defects: Duplex kidneys with cysts and hydronephrosis

Mutant Type 2:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Cystic kidney, duplex/multiplex kidney, and hydronephrosis

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
0190	Heterotaxy Syndrome
0600	Double outlet right ventricle
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1821	Hypoplastic right ventricle (subnormal cavity volume)
2704	Aortic arch hypoplasia
2760	Vascular ring
3804	Congenital heart disease
3953	{S,D,S}
4502	Hydronephrosis
4508	Polycystic kidney disease
7504	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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