b2b1639Clo
Chemically induced Allele Detail

Nomenclature

• Symbol: b2b1639Clo
• Name: Mutant line 1639; Bench to Bassinet Program (B2B/CVDC), mutation 1639 Cecilia Lo
• MGI ID: MGI:5438061
• Synonyms: Finn
• Gene: b2b1639Clo Location: unknown

Mutant 1639-006-LA exhibit enlarged ascending Ao and transverse arch, and congested atria

Show the 3 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
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. Additional incidental mutations were detected in sequencing for the causative mutation, b2b1639Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

3 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 b2b1639Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiac phenotype: Hypoplastic right heart syndrome (HRHS) with hypoplastic tricuspid valve, hypoplastic right ventricle, and right ventricular hypertrophy

Phenotypic Similarity to Human Syndrome:Hypoplastic right heart syndrome (HRHS)

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
1720	Hypoplastic tricuspid valve
1821	Hypoplastic right ventricle (subnormal cavity volume)
3609	Right ventricular 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). 2011-15
• All: 2 reference(s)