Cep290^b2b1752Clo
Chemically induced Allele Detail

Summary

• Symbol: Cep290^b2b1752Clo
• Name: centrosomal protein 290; Bench to Bassinet Program (B2B/CVDC), mutation 1752 Cecilia Lo
• MGI ID: MGI:5438068
• Synonyms: Beyonce
• Gene: Cep290 Location: Chr10:100323410-100409527 bp, + strand Genetic Position: Chr10, 51.48 cM
• Alliance: Cep290^b2b1752Clo page

Mutant 1752-002-LA displays heterotaxy indicated by mesocardia, left lung isomerism and dextrogastria

Show the 9 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: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +2 following coding nucleotide 1189 (c.1189+2T>C, NM_146009) in intron 13. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cep290^b2b1752Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Cep290 Mutation: 124 strains or lines available

Notes

Summative Diagnosis:
Cardiac Phenotype: Congenital heart disease (CHD) associated with heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Left bronchial isomerism, hypoplastic spleen

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
0190	Heterotaxy syndrome
0720	D-loop TGA with ventricular septal defect
1100	Atrioventricular canal (endocardial cushion defect)
2050	Atrial septal defect
3804	Congenital heart disease
4239	Left bronchial isomerism

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: 3 reference(s)