b2b635Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b635Clo
• Name: Mutant line 635; Bench to Bassinet Program (B2B/CVDC), mutation 635 Cecilia Lo
• MGI ID: MGI:5311367
• Synonyms: Ohia
• Gene: b2b635Clo Location: unknown
• Alliance: b2b635Clo page

Mutant 635-004-NA exhibits hypoplastic left ventricle and ascending arch hypoplasia, which was diagnosed as HLHS by EFIC imaging

Show the 16 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 phenotypic deviant was isolated in a screen at the University of Pittsburgh and point mutations were found in Nadsyn1, Pepd, Exco1, Pcdha9, and Sap130, of which the point mutations in Pcdha9 and Sap130 were found to cause the phenotype of hypoplastic left heart syndrome. See Pcdha9^b2b635.1Clo and Sap130^b2b635.2Clo. (J:242757) Additional incidental mutations were detected in sequencing for the causative mutation, b2b635Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

8 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 b2b635Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular defects: Hypoplastic left ventricle, hypoplastic aortic valve and mitral valve, ascending aorta hypoplasia.
Non-cardiovascular defects: Micrognathia and kinked tail

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
0300	Hypoplastic left heart syndrome
1400	Aortic valve abnormality
1515	Hypoplastic mitral valve
1811	Hypoplastic left ventricle (subnormal cavity volume)
2703	Hypoplasia ascending aorta
4163	Micrognathia

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: 5 reference(s)