b2b370Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b370Clo
• Name: Mutant line 370; Bench to Bassinet Program (B2B/CVDC), mutation 370 Cecilia Lo
• MGI ID: MGI:5311366
• Synonyms: Kitty
• Gene: b2b370Clo Location: unknown
• Alliance: b2b370Clo page

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

Show the 18 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 b2b370.1Clo and Lox^b2b370.2Clo

Disease models

Expression

In Structures Affected by this Mutation:

9 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 b2b370Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Different mutations causing two independently segregating phenotypes:
Mutant 1: 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
Mutant 2 (Lox gene mutation): Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
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)