b2b2187Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2187Clo
• Name: Mutant line 2187; Bench to Bassinet Program (B2B/CVDC), mutation 2187 Cecilia Lo
• MGI ID: MGI:5491256
• Synonyms: Delia
• Gene: b2b2187Clo Location: unknown
• Alliance: b2b2187Clo page

Mutant 2187-004-NC has a hypoplastic aorta and pulmonary stenosis as well as DORV and biventricular hypertrophy that was confirmed by EFIC imaging

Show the 33 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 b2b2187.1Clo and b2b2187.2Clo (J:175213)

Expression

In Structures Affected by this Mutation:

10 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 b2b2187Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), overriding aorta with perimembranous ventricular septal defect (pmVSD), valvular dysplasia (atrioventricular valve and semilunar valve), pulmonary stenosis, and biventricular hypertrophy
Noncardiovascular phenotype: Hydrops, short snout, micrognathia, cleft palate, hydronephrosis, cystic kidneys, unfused sternum, abnormal flexure of the hindlimbs, hypoplastic thymus

Mutant Type 2:
Cardiovascular phenotype: Ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defects including microphthalmia, cleft palate, and micrognathia

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
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4876	Cleft palate
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy
0600	Double outlet right ventricle
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1432	Overriding aortic valve
1610	Pulmonary stenosis
4100	Skeletal, skin, muscle anomaly
4502	Hydronephrosis
4877	Microphthalmia

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)