B6.129X1-Ltbp1^tm1Rawe/Cnrm

Status	Available to order
EMMA ID	EM:02446
Citation information	RRID:IMSR_EM:02446 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6.129X1-Ltbp1^tm1Rawe/Cnrm
Alternative name	Ltbp-1 ko
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Ltbp1^tm1Rawe
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	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 Latent TGF-β binding protein-1 deficiency decreases female fertility.;Dietzel Eileen, Weiskirchen Sabine, Floehr Julia, Horiguchi Masahito, Todorovic Vesna, Rifkin Daniel B, Jahnen-Dechent Willi, Weiskirchen Ralf, ;2017;Biochemical and biophysical research communications;482;1387-1392; 27956181
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

IMPC phenotypes (gene matching)

decreased body weight / IMPC
decreased body length / IMPC
lipid deposition / IMPC
abnormal snout morphology / IMPC
increased hemoglobin content / IMPC
abnormal coat/hair pigmentation / IMPC
decreased total body fat amount / IMPC
abnormal ulna morphology / IMPC
vertebral fusion / IMPC
abnormal radius morphology / IMPC
increased circulating bilirubin level / IMPC
abnormal tooth morphology / IMPC
abnormal cranium morphology / IMPC
abnormal incisor morphology / IMPC
decreased bone mineral content / IMPC

MGI phenotypes (allele matching)

short mandible / MGI
short maxilla / MGI
abnormal cranium morphology / MGI
short snout / MGI
abnormal jaw morphology / MGI
liver fibrosis / MGI
small basioccipital bone / MGI
small basisphenoid bone / MGI
abnormal incisor morphology / MGI

MGI phenotypes (gene matching)

short mandible / MGI
short maxilla / MGI
decreased circulating LDL cholesterol level / MGI
decreased circulating HDL cholesterol level / MGI
increased leukocyte cell number / MGI
double outlet right ventricle / MGI
abnormal cranium morphology / MGI
abnormal snout morphology / MGI
short snout / MGI
abnormal jaw morphology / MGI
abnormal radius morphology / MGI
decreased body length / MGI
decreased body weight / MGI
cyanosis / MGI
abnormal tooth morphology / MGI
persistent truncus arteriosis / MGI
dilated renal tubules / MGI
decreased circulating alanine transaminase level / MGI
liver fibrosis / MGI
abnormal coronary artery morphology / MGI
decreased circulating iron level / MGI
interrupted aortic arch / MGI
right aortic arch / MGI
small basioccipital bone / MGI
small basisphenoid bone / MGI
abnormal ulna morphology / MGI
decreased circulating cholesterol level / MGI
abnormal incisor morphology / MGI
decreased circulating serum albumin level / MGI
increased mean corpuscular hemoglobin / MGI
increased hemoglobin content / MGI
increased blood urea nitrogen level / MGI
decreased circulating total protein level / MGI
abnormal vascular smooth muscle morphology / MGI
decreased circulating aspartate transaminase level / MGI
abnormal fourth pharyngeal arch artery morphology / MGI
polycystic kidney / MGI
decreased total body fat amount / MGI
decreased bone mineral content / MGI
common atrium / MGI
perimembraneous ventricular septal defect / MGI
abnormal truncus arteriosus septation / MGI
vascular ring / MGI
abnormal ascending aorta and coronary artery attachment / MGI
integument phenotype / MGI
neonatal lethality, complete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
renal glomerulus cysts / MGI
abnormal cardiac neural crest cell morphology / MGI
abnormal lower incisor morphology / MGI

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
Latent TGF-β binding protein-1 deficiency decreases female fertility.;Dietzel Eileen, Weiskirchen Sabine, Floehr Julia, Horiguchi Masahito, Todorovic Vesna, Rifkin Daniel B, Jahnen-Dechent Willi, Weiskirchen Ralf, ;2017;Biochemical and biophysical research communications;482;1387-1392; 27956181

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Practical information

Example health report
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EMMA conditions
Legally binding conditions for the transfer

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B6.129X1-Ltbp1tm1Rawe/Cnrm