b2b1879Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1879Clo
• Name: Mutant line 1879; Bench to Bassinet Program (B2B/CVDC), mutation 1879 Cecilia Lo
• MGI ID: MGI:5476173
• Synonyms: Carter
• Gene: b2b1879Clo Location: unknown
• Alliance: b2b1879Clo page

Mutant 1879-002-NA shows abnormal placement of the outflow with malformed pulmonary trunk and is diagnosed with DORV by EFIC imaging

Show the 25 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 b2b1879.1Clo and b2b1879.2Clo (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1879Clo, and may be present in stocks carrying this mutation.

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 b2b1879Clo Mutation: 1 strain or line available

Notes

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 b2b1879.1Clo and b2b1879.2Clo
Summative Diagnosis:
Mutant Type 1:
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy
Noncardiovascular Phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate

Mutant Type 2:
Noncardiac phenotype: Kidney agenesis

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
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
4100	Skeletal, skin, muscle anomaly
4876	Cleft palate
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
4503	Agenesis of kidneys

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)