B6.129S2-Ltbp4Gt(U3Cre)1Vmel/VmelKieg

Status

Available to order

EMMA IDEM:00003
International strain nameB6.129S2-Ltbp4Gt(U3Cre)1Vmel/VmelKieg
Alternative name3C7
Strain typeGene-trap
Allele/Transgene symbolLtbp4Gt(U3Cre)1Vmel,
Gene/Transgene symbolLtbp4

Information from provider

ProviderHarald von Melchner
Provider affiliationUniversity of Frankfurt Medical School
Genetic informationUse of a gene trap strategy, that selects for integrations into genes transiently induced during early mouse development, for disruption of the mouse homolog of the human LTBP4 gene.
Phenotypic informationTransforming growth factor-betas (TGF-betas) are multifunctional growth factors that are secreted as inactive (latent) precursors in large protein complexes. These complexes include the latency-associated propeptide (LAP) and a latent transforming growth factor-beta binding protein (LTBP). Four isoforms of LTBPs (LTBP-1 to LTBP-4) have been cloned and are believed to be structural components of connective tissue microfibrils and local regulators of TGF-beta tissue deposition and signaling. By using a gene trap strategy, that selects for integrations into genes transiently induced during early mouse development, we have disrupted the mouse homolog of the human LTBP4 gene. Mice homozygous for the disrupted allele develop severe pulmonary emphysema, cardiomyopathy, and colorectal cancer. These highly tissue-specific abnormalities are associated with profound defects in the elastic fiber structure and with a reduced deposition of TGF-beta in the extracellular space. As a consequence, epithelial cells have reduced levels of phosphorylated Smad2 proteins, over-express c-myc, and undergo uncontrolled proliferation. This phenotype supports the predicted dual role of LTBP-4 as a structural component of the extracellular matrix and as a local regulator of TGF-beta tissue deposition and signaling.
Breeding historyBackcrossed more than 10 generations to C57BL/6
References
  • Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer.;Sterner-Kock Anja, Thorey Irmgard S, Koli Katri, Wempe Frank, Otte Jürgen, Bangsow Thorsten, Kuhlmeier Katharina, Kirchner Thomas, Jin Shenchu, Keski-Oja Jorma, von Melchner Harald, ;2002;Genes & development;16;2264-73; 12208849

Information from EMMA

Archiving centreKarolinska Institutet, Stockholm, Sweden

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

    • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies / Orphanet_221145
MGI phenotypes (allele matching)
  • rectal prolapse / MGI
  • abnormal colon morphology / MGI
  • abnormal intestinal mucosa morphology / MGI
  • intestinal ulcer / MGI
  • enlarged spleen / MGI
  • atelectasis / MGI
  • overexpanded pulmonary alveoli / MGI
  • respiratory distress / MGI
  • emphysema / MGI
  • abnormal pulmonary alveolus morphology / MGI
  • colitis / MGI
  • increased heart weight / MGI
  • ventricular cardiomyopathy / MGI
  • abnormal pulmonary elastic fiber morphology / MGI
  • proctitis / MGI
  • abnormal intestinal goblet cell morphology / MGI
  • enlarged myocardial fiber / MGI
  • abnormal large intestine crypts of Lieberkuhn morphology / MGI
  • enlarged lung / MGI
  • abnormal cell physiology / MGI
  • dilated heart ventricle / MGI
  • increased large intestine adenocarcinoma incidence / MGI
  • increased lung compliance / MGI
  • abnormal pulmonary alveolus wall morphology / MGI
  • abnormal aorta morphology / MGI
  • enlarged heart / MGI
  • abnormal interventricular septum morphology / MGI
  • abnormal lung morphology / MGI
  • abnormal skin morphology / MGI
  • abnormal aorta elastic fiber morphology / MGI
  • abnormal heart left ventricle morphology / MGI
  • mortality/aging / MGI
  • abnormal pulmonary alveolar system morphology / MGI
  • postnatal lethality, incomplete penetrance / MGI
  • cardiomyopathy / MGI
  • increased gastrointestinal tumor incidence / MGI

Literature references

  • Disruption of the gene encoding the latent transforming growth factor-beta binding protein 4 (LTBP-4) causes abnormal lung development, cardiomyopathy, and colorectal cancer.;Sterner-Kock Anja, Thorey Irmgard S, Koli Katri, Wempe Frank, Otte Jürgen, Bangsow Thorsten, Kuhlmeier Katharina, Kirchner Thomas, Jin Shenchu, Keski-Oja Jorma, von Melchner Harald, ;2002;Genes & development;16;2264-73; 12208849

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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