b2b1963Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1963Clo
• Name: Mutant line 1963; Bench to Bassinet Program (B2B/CVDC), mutation 1963 Cecilia Lo
• MGI ID: MGI:5467354
• Synonyms: Fez
• Gene: b2b1963Clo Location: unknown
• Alliance: b2b1963Clo page

Mutant 1963-002-3 (E16.5) exhibits a hypoplastic transverse arch and hypoplastic LV.

Show the 12 phenotype image(s) involving this allele.

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Undefined
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1963Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 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 b2b1963Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Hypoplastic left heart syndrome (HLHS), double outlet right ventricle (DORV), transverse arch hypoplasia, and hypoplastic left ventricle
Noncardiovascular phenotype: Cleft palate, micrognathia with recessed lower jaw, microphthalmia/anophthalmia, and exencephaly

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
0600	Double outlet right ventricle
1811	Hypoplastic left ventricle (subnormal cavity volume)
2704	Aortic arch hypoplasia
4163	Micrognathia
4864	Anophthalmia
4876	Cleft palate
4877	Microphthalmia
4906	Non-cardiac abnormality

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)