- 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
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 |
|
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)
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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