Ltbp1^b2b1000Clo
Chemically induced Allele Detail

Summary

• Symbol: Ltbp1^b2b1000Clo
• 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
• Alliance: Ltbp1^b2b1000Clo page

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 details: 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*). Additional incidental mutations were detected in sequencing for the causative mutation, Ltbp1^b2b1000Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 115 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). 2011-09-12
• All: 2 reference(s)