|  Help  |  About  |  Contact Us

Allele : Lama5<b2b2966.1Clo> laminin, alpha 5; Bench to Bassinet Program (B2B/CVDC), mutation 2966, subline 1 Cecilia Lo
Primary Identifier  MGI:5646299 Allele Type  Chemically induced (ENU)
Gene  Lama5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
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.

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. It is a subline of b2b2966Clo. The molecular lesion for this subline is a T to A substitution at coding nucleotide 333 of the cDNA (c.333T>A, NM_001081171). This changes the cysteine residue to a translation stop at position 111 of the encoded protein (p.C111*).
  • mutations:
  • Single point mutation
Paste the following link
Quick Links:
SummaryGenomePhenotypeOther
 
Quick Links:
SummaryGenomePhenotypeOther
 
Lists
This Allele isn't in any lists. Upload a list.

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele




MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom