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b2b370Clo
Chemically induced Allele Detail
Nomenclature
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  
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 detailsThis 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 Loxb2b370.2Clo
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structures
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). 2011-15;
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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory