b2b227Clo Chemically induced Allele Detail MGI Mouse (MGI:5437098)

b2b227Clo
Chemically induced Allele Detail

Summary

Symbol:	b2b227Clo
Name:	Mutant line 227; Bench to Bassinet Program (B2B/CVDC), mutation 227 Cecilia Lo
MGI ID:	MGI:5437098
Synonyms:	Scrappy
Gene:	b2b227Clo Location: unknown
Alliance:	b2b227Clo page

Mutant 227-002-NC exhibits dextrocardia with duplicated inferior vena cava (IVC) and parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 19 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 b2b227.1Clo and b2b227.2Clo. (J:175213)

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)
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hm1 Disease Model	b2b227Clo/b2b227Clo	C57BL/6J-b2b227Clo

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cardiovascular system	√
heart left ventricle hypertrophy	√
heart right ventricle hypertrophy	√
double outlet right ventricle	√
dextrocardia	√
mesocardia	√
ventricular septal defect	√
cardiomyopathy	√
cellular	√
abnormal respiratory motile cilium physiology	√
immotile respiratory cilia	√
digestive/alimentary system	√
right-sided stomach	√
growth/size/body	√
heart left ventricle hypertrophy	√
heart right ventricle hypertrophy	√
lung cyst	√
heterotaxia	√
right-sided stomach	√
situs inversus totalis	√
hematopoietic system	√
spleen hypoplasia	√
immune system	√
spleen hypoplasia	√
muscle	√
heart left ventricle hypertrophy	√
heart right ventricle hypertrophy	√
cardiomyopathy	√
respiratory system	√
abnormal respiratory motile cilium physiology	√
immotile respiratory cilia	√
lung cyst	√
abnormal respiration	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
heart disease IDs heart disease DOID:114 ICD10CM:I51.9 ICD9CM:429.9 MESH:D006331 NCI:C3079 UMLS_CUI:C0018799 Close	√
primary ciliary dyskinesia IDs primary ciliary dyskinesia DOID:9562 DOID:2925 MESH:D002925 NCI:C84638 OMIM:PS244400 ORDO:244 UMLS_CUI:C0008780 Close	√
visceral heterotaxy IDs visceral heterotaxy DOID:0050545 OMIM:PS306955 ORDO:450 Close	√

Expression

In Structures Affected by this Mutation:

10 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 b2b227Clo Mutation:	1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Dextrocardia/mesocardia and congenital heart disease associated with heterotaxy, such as double outlet right ventricle (DORV), atrioventricular (AVSD) and ventricular septal defects (VSD), right aortic arch (RAA), right atrial isomerism (RAI), and dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, hypoplastic spleen, inverted liver lobation, and malaligned sternal vertebra. Also observed were cystic lungs and immotile/slow/dyskinetic airway cilia
Mutant Type 2:
Biventricular 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
0110	Dextrocardia
0140	Mesocardia
0190	Heterotaxy Syndrome
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4100	Skeletal, skin, muscle anomaly
4200	Respiratory anomaly
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
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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