About   Help   FAQ
Ltbp1b2b1000Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Ltbp1b2b1000Clo
Name: latent transforming growth factor beta binding protein 1; Bench to Bassinet Program (B2B/CvDC) mutation 1000, Cecilia Lo
MGI ID: MGI:5316784
Synonyms: Millenium
Gene: Ltbp1  Location: Chr17:75312563-75699507 bp, + strand  Genetic Position: Chr17, 46.24 cM, cytoband E3
Persistent truncus arteriosus (PTA) found in mutant 1000-007-3 (E16.5)

Show the 15 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:    Single point mutation
 
Mutation detailsThis 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*). Additional incidental mutations were detected in sequencing for the causative mutation, Ltbp1b2b1000Clo, and may be present in stocks carrying this mutation.
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ltbp1 Mutation:  76 strains or lines available
Notes
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

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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/23/2021
MGI 6.17
The Jackson Laboratory