b2b243Clo
Chemically induced Allele Detail

Nomenclature

• Symbol: b2b243Clo
• Name: Mutant line 243; Bench to Bassinet Program (B2B/CVDC), mutation 243 Cecilia Lo
• MGI ID: MGI:5430049
• Synonyms: Jupiter
• Gene: b2b243Clo Location: unknown

Mutant 243-003-2 (E 18.5) displays right aortic arch and PTA (confirmed by EFIC imaging)

Show the 7 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 b2b243.1Clo and b2b243.1Clo. (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 b2b243Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1: Cardiac phenotype: Persistant truncus arteriosus (PTA) with right aortic arch
Mutant Type 2: Non-cardiac phenotype: Cystic kidney and hydronephrosis

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
2720	Right aortic arch
0500	Truncus arteriosus
4502	Hydronephrosis
4508	Polycystic kidney disease

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)