b2b2362Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2362Clo
• Name: Mutant line 2362; Bench to Bassinet Program (B2B/CVDC), mutation 2362 Cecilia Lo
• MGI ID: MGI:5560155
• Synonyms: Tell-Tale
• Gene: b2b2362Clo Location: unknown
• Alliance: b2b2362Clo page

Mutant 2362-004-1 (E16.5) exhibits ectopia cordis, ventricular non-compaction, and gastroschisis with a body wall closure defect

Show the 23 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutations: Single point 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 Slit3^b2b2362.1Clo and b2b2362.2Clo (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b2362Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

7 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 b2b2362Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Double outlet right ventricle (including Taussig-Bing subtype, DORV) with atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and ventricular non-compaction. In one mutant this was accompanied by ectopia cordis.
Noncardiovascular Phenotype (one mutant): Gastroschisis with ectopia cordis, hypoplastic kidneyl with some glomerular cysts
Mutant Type 2:
Cardiovascular Phenotype: Biventricular hypertrophy
Noncardiovascular Phenotype: Craniofacial defect including facial cleft/cleft lip, short snout, micrognathia, and dome shaped head

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
0170	Ectopia cordis
0606	DORV + AVSD (AV canal)
0610	DORV, Taussig bing
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
4414	Gastroschisis
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4875	Cleft lip
7505	Biventricular 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). 2011-09-12
• All: 2 reference(s)