Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :12379742
Publication Date : //

The osteopetrotic mutation toothless (tl) is a loss-of-function frameshift mutation in the rat Csf1 gene: Evidence of a crucial role for CSF-1 in osteoclastogenesis and endochondral ossification.


The toothless (tl) mutation in the rat is a naturally occurring, autosomal recessive mutation resulting in a profound deficiency of bone-resorbing osteoclasts and peritoneal macrophages. The failure to resorb bone produces severe, unrelenting osteopetrosis, with a highly sclerotic skeleton, lack of marrow spaces, failure of tooth eruption, and other pathologies. Injections of CSF-1 improve some, but not all, of these. In this report we have used polymorphism mapping, sequencing, and expression studies to identify the genetic lesion in the tl rat. We found a 10-base insertion near the beginning of the open reading of the Csf1 gene that yields a truncated, nonfunctional protein and an early stop codon, thus rendering the tl rat CSF-1(null). All mutants were homozygous for the mutation and all carriers were heterozygous. No CSF-1 transcripts were identified in rat mRNA that would avoid the mutation via alternative splicing. The biology and actions of CSF-1 have been elucidated by many studies that use another naturally occurring mutation, the op mouse, in which a single base insertion also disrupts the reading frame. The op mouse has milder osteoclastopenia and osteopetrosis than the tl rat and recovers spontaneously over the first few months of life. Thus, the tl rat provides a second model in which the functions of CSF-1 can be studied. Understanding the similarities and differences in the phenotypes of these two models will be important to advancing our knowledge of the many actions of CSF-1.

Authors : Van Wesenbeeck Liesbeth , Odgren Paul R , MacKay Carole A , D'Angelo Marina , Safadi Fayez F , Popoff Steven N , Van Hul Wim , Marks Sandy C ,

Related products :

Catalog number Product name Quantity
28-898 DLX5 is a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This protein may play a role in bone development and fracture healing. Mutation in its gene 0.1 mg
28-899 DLX5 is a member of a homeobox transcription factor family. DLX5 may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with 0.1 mg
27-728 DLX5 is a member of a homeobox transcription factor family. DLX5 may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with 0.05 mg
orb81454 Human Ubiquitin Lys 48 to Arg 48 mutation protein Recombinant human ubiquitin featuring Lys 48 to Arg48 mutation is useful for the reduction of poly-Ub chain length and conjugation rates.Ubiquitin K48 5
GENSYN009 Mutation on Existing Gene, <3KB 1 POINT
GENSYN007 Mutation on Existing Gene, <1KB 1 POINT
GENSYN008 Mutation on Existing Gene, <2KB 1 POINT
GENSYN010 Mutation on Existing Gene, <4KB 1 POINT
27-742 HR is a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor for thyroid hormone and interacts with histone deacetylases. Mutation 0.05 mg
27-741 HR is a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor for thyroid hormone and interacts with histone deacetylases. Mutation 0.05 mg
8226 COMT (Val158Met MUTATION) GENE, BLOOD 1
8288 JAK2 GENE (V617F MUTATION), BLOOD 1
2489 MTHFR GENE (C677T MUTATION), BLOOD 1
ADx-MK01 AmoyDx MEK1 Gene Mutation Detection Kit 24 Kit size (test/kit)
2497 PROTHROMBIN GENE (20210 MUTATION), BLOOD 1
orb81452 Human Ubiquitin Gly76 to Ala76 mutation protein Recombinant human ubiquitin featuring Gly76 to Ala76 mutation that, by inhibiting the ubiquitin hydrolases, prevents the removal of ubiquitin from prote 5
8233 CYSTIC FIBROSIS GENE (CFTR) SPECIFIC MUTATION, BLOOD 1
30-602 TMC2 is considered a member of transmembrane proteins family. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory fu 0.05 mg
29-078 TEAD1 is a transcriptional enhancer. It interacts with a muscle-specific cofactor to promote skeletal muscle gene expression. The mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal a 0.05 mg
31-215 TEAD1 is a transcriptional enhancer. It interacts with a muscle-specific cofactor to promote skeletal muscle gene expression. The mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal a 0.1 mg
27-315 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins. It is 0.05 mg
25-078 LASS2 is a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein m 0.05 mg
27-441 LASS2 is a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein m 0.05 mg
26-189 ABI3BP contains 2 fibronectin type-III domains. The loss of ABI3BP expression could play a functional role in thyroid tumorigenesis. It also presumably represents a trigger gene for evoking cellular s 0.05 mg
29-973 TGFBI Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation. 0.1 mg


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur