b2b370.1Clo Chemically induced Allele Detail MGI Mouse (MGI:5313523)

b2b370.1Clo
Chemically induced Allele Detail

Summary

Symbol:	b2b370.1Clo
Name:	Mutant line 370, subline 1; Bench to Bassinet Program (B2B/CVDC), mutation 370, subline 1 Cecilia Lo
MGI ID:	MGI:5313523
Gene:	b2b370.1Clo Location: unknown
Alliance:	b2b370.1Clo page

Craniofacial abnormalities including proboscis, lack of mouth and lower jaw.

Show the 8 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 was isolated in a screen at the University of Pittsburgh. It is a subline of b2b370Clo. Additional incidental mutations were detected in sequencing for the causative mutation, b2b370.1Clo, and may be present in stocks carrying this mutation.

Phenotypes

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

Expression

In Structures Affected by this Mutation:

5 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 b2b370.1Clo Mutation:	1 strain or line available

Notes

This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries.
Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly

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
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3804	Congenital heart disease
4163	Micrognathia
4874	Mouth malformation
4907	Non-cardiac thoracic abnormality

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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