b2b3077Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b3077Clo
• Name: Mutant line 3077 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 3077 Cecilia Lo
• MGI ID: MGI:5646612
• Synonyms: Po
• Gene: b2b3077Clo Location: unknown
• Alliance: b2b3077Clo page

Mutant 3077-006-2 (E15.5) exhibits parallel outflow tracts, pulmonary stenosis, and small left atrium later diagnosed as double outlet right ventricle (DORV), hypoplastic pulmonary artery, and hypoplastic left atrium by ECM histopathology.

Show the 51 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 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 Wnt5a^b2b3077.1Clo and b2b3077.2Clo. (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

15 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any b2b3077Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with hypoplastic pulmonary artery, persistent truncus arteriosus (PTA), and atrioventricular septal defect (AVSD), small left ventricle (LV).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic lungs, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.


Mutant Type 2:
Cardiovascular phenotypes: Hypoplastic left ventricle (LV), aortic atresia, and hypoplastic mitral, phenotypes consistent with hypoplastic left heart syndrome (HLHS).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic and accessory anterior lung lobes, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.

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 Codes	Code Description
1811	Hypoplastic left ventricle (subnormal cavity volume)
4163	Micrognathia
4170	Hand and/or foot anomaly
4174	Syndactyly
4401	Cleft palate and cleft lip
4512	Renal malformation
4875	Cleft lip
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
1100	Atrioventricular canal (endocardial cushion defect)
2966	Hypoplastic main pulmonary artery
500	Truncus arteriosus
600	Double outlet right ventricle
300	Hypoplastic left heart syndrome
320	Aortic atresia
1515	Hypoplastic mitral valve

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)