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Allele : b2b2966Clo Mutant line 2966 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 2966 Cecilia Lo

Primary Identifier  MGI:5646292 Allele Type  Chemically induced (ENU)
Gene  b2b2966Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Mesocardia, double outlet right ventricle (DORV)/overriding aorta, ventricular septal defects (VSDs), atrioventricular septal defect (AVSD), persistent truncus arteriosus (PTA), hypoplastic pulmonary artery (PA), and aortic arch anomalies including interrupted aortic arch (IAA), right aortic arch (RAA), and aberrant right subclavian artery forming incomplete vascular ring.

Noncardiovascular phenotype: Exencephaly, syndactyly, runted, curly tail, single/hypoplastic thymus, low-set ears, left lung isomerism, kidney cysts and tubular dilation, kidney agenesis, and eye defects such as anophthalmia and microphthalmia.


Mutant Type 2:
Cardiovascular phenotypes: 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.

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
1050 Tetralogy of Fallot
1300 Ventricular septal defect
1610 Pulmonary stenosis
2731 Aberrant right subclavian artery
2760 Vascular ring
4170 Hand and/or foot anomaly
4174 Syndactyly
4239 Left bronchial isomerism
4503 Agenesis of kidneys
4864 Anophthalmia
4877 Microphthalmia
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
600 Double outlet right ventricle

molecularNote  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 Lama5b2b2966.1Clo and Adamts6b2b2966.2Clo.
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

4 Publication categories