MGI phenotypes (allele matching)
B6.129X1-Ltbp1tm1Rawe/Cnrm
| Status | Available to order |
| EMMA ID | EM:02446 |
| International strain name | B6.129X1-Ltbp1tm1Rawe/Cnrm |
| Alternative name | Ltbp-1 ko |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Ltbp1tm1Rawe, |
| Gene/Transgene symbol | Ltbp1 |
Information from provider
| Provider | Ralf Weiskirchen |
| Provider affiliation | RWTH University Hospital Aachen |
| Genetic information | Targeting construct is derived from 129SvJ DNA. The LacZ/neo disruption cassette was cloned into a unique BspMI site of exon 5 of the Ltbp1 gene (see accession no. AY143161). Using this strategy, both Ltbp1 transcripts (Ltbp-1S, Ltbp-1L) were disrupted. |
| Phenotypic information | Homozygous nulls display a more compact head structure with shortened snouts after birth. Moreover, bone preparations from siblings revealed a minor contraction of the basisphenoid, the basisoccipital, and extremities. |
| Breeding history | Mice are at N=10. They are presently bred under sterile conditions (not SPF). |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive cutis laxa type 1 / Orphanet_90349
Literature references
- Disruption of the latent transforming growth factor-beta binding protein-1 gene causes alteration in facial structure and influences TGF-beta bioavailability.;Drews Falko, Knöbel Sebastian, Moser Markus, Muhlack Kai G, Mohren Simone, Stoll Christian, Bosio Andreas, Gressner Axel M, Weiskirchen Ralf, ;2008;Biochimica et biophysica acta;1783;34-48; 17950478
- Abrogation of both short and long forms of latent transforming growth factor-β binding protein-1 causes defective cardiovascular development and is perinatally lethal.;Horiguchi Masahito, Todorovic Vesna, Hadjiolova Krassimira, Weiskirchen Ralf, Rifkin Daniel B, ;2015;Matrix biology : journal of the International Society for Matrix Biology;43;61-70; 25805620