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Allele : Ltbp1<b2b1000Clo> latent transforming growth factor beta binding protein 1; Bench to Bassinet Program (B2B/CvDC) mutation 1000, Cecilia Lo
Primary Identifier  MGI:5316784 Allele Type  Chemically induced (ENU)
Gene  Ltbp1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiodvascular defects: Persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), aortic arch anomalies including interrupted aortic arch (IAA) and vascular ring.
Noncardiac defects: Kidney defects - glomerular cysts and tubular dilations.

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
0500 Truncus arteriosus
0600 Double outlet right ventricle
1250 Interrupted aortic arch
2720 Right aortic arch
2760 Vascular ring
4508 Polycystic kidney disease

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide position 1134 in exon 7 of the cDNA (c.1134T>A, NM_206958). This changes the cysteine residue to a stop at position 378 of the encoded protein (p.C378*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Millenium,
  • Millenium
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

0 Driven By

3 Publication categories





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