Ltbp3^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ltbp3^m1Btlr
• Name: latent transforming growth factor beta binding protein 3; mutation 1, Bruce Beutler
• MGI ID: MGI:3723580
• Synonyms: craniofacial and skeletal malformation with paralysis, CSP, Ltbp3^csp
• Gene: Ltbp3 Location: Chr19:5790932-5808560 bp, + strand Genetic Position: Chr19, 4.34 cM, cytoband B
• Alliance: Ltbp3^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, discovered because of its obvious homozygous phenotype among progeny of ENU-mutagenized mice, comprises a T-to-C transition at nucleotide position 2343 in exon 9 of the gene (GenBank Accession NM_008520) that results in the Cys452Arg amino acid substitution. Cys452 resides in the predicted 4th domain of the protein, which contains twelve EGF-like repeats and two 8-Cys motifs/TGF-bp repeats; the first of the latter (which is the third 8-Cys motif of the protein) is involved in disulfide bonding with inactive transforming growth factor, beta 1. (J:133615)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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 Ltbp3 Mutation: 59 strains or lines available

References

• Original: J:133615 Du X, et al., Csp is an allele of Ltbp3 (latent transforming growth factor beta binding protein 3) and is involved in TGF-beta signaling. MGI Direct Data Submission. 2008
• All: 2 reference(s)