b2b1291Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1291Clo
• Name: Mutant line 1291; Bench to Bassinet Program (B2B/CVDC), mutation 1291 Cecilia Lo
• MGI ID: MGI:5437085
• Synonyms: Bloonie
• Gene: b2b1291Clo Location: unknown
• Alliance: b2b1291Clo page

Mutant 1291-006-LA exhibits heterotaxy with levocardia and dextrogastria

Show the 10 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 b2b1291.1Clo and b2b1291.2Clo. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1291Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

2 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 b2b1291Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Heterotaxy with levocardia and dextrogastria
Noncardiovascular phenotype: Polycystic kidney disease

Mutant Type 2:
Polycystic kidney disease, duplex kidney and hydronephrosis

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy, Polycystic kidney disease
Mutant Type 2: Polycycstic kidney disease

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
0102	Levocardia
0190	Heterotaxy Syndrome
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). 2011-09-12
• All: 2 reference(s)