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Allele : b2b2187Clo Mutant line 2187; Bench to Bassinet Program (B2B/CVDC), mutation 2187 Cecilia Lo

Primary Identifier  MGI:5491256 Allele Type  Chemically induced (ENU)
Gene  b2b2187Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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
  • mutations:
  • Undefined
  • synonyms:
  • Delia,
  • Delia
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories