B6(Cg)-Lrp4tm1.1Pg/Orl

Status

Available to order

EMMA IDEM:11342
Citation informationRRID:IMSR_EM:11342 

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 nameB6(Cg)-Lrp4tm1.1Pg/Orl
Alternative nameC57BL/6N-Lrp4R1170Q
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolLrp4tm1.1Pg
Gene/Transgene symbolLrp4

Information from provider

ProviderEveline Boudin
Provider affiliationCenter of Medical Genetics, University of Antwerp
Genetic informationIntroduction of the p. R1170Q mutation (c. G3509A) in the mouse Lrp4 gene.
Phenotypic informationHomozygous:
Homozygous knock-in mice have a significantly increased bone mass and strength as a result of increased bone formation.

Heterozygous:
Heterozygous carriers of the mutation have no skeletal phenotype.
References
  • The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.;Boudin Eveline, Yorgan Timur, Fijalkowski Igor, Sonntag Stephan, Steenackers Ellen, Hendrickx Gretl, Peeters Silke, De Maré Annelies, Vervaet Benjamin, Verhulst Anja, Mortier Geert, D'Haese Patrick, Schinke Thorsten, Van Hul Wim, ;2017;Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research;32;1739-1749; 28477420
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France
Animals used for archivingheterozygous C57BL/6N males

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • abnormal tooth development / MGI
  • abnormal chondrocyte morphology / MGI
  • absent kidney / MGI
  • abnormal kidney development / MGI
  • abnormal forelimb morphology / MGI
  • abnormal hindlimb morphology / MGI
  • polydactyly / MGI
  • syndactyly / MGI
  • oligodactyly / MGI
  • ectopic digits / MGI
  • abnormal autopod morphology / MGI
  • deformed nails / MGI
  • abnormal motor neuron morphology / MGI
  • abnormal neuromuscular synapse morphology / MGI
  • failure of neuromuscular synapse presynaptic differentiation / MGI
  • failure of neuromuscular synapse postsynaptic differentiation / MGI
  • abnormal phrenic nerve morphology / MGI
  • atelectasis / MGI
  • decreased body size / MGI
  • abnormal nursing / MGI
  • no spontaneous movement / MGI
  • hunched posture / MGI
  • abnormal coat appearance / MGI
  • cyanosis / MGI
  • abnormal apical ectodermal ridge morphology / MGI
  • thick apical ectodermal ridge / MGI
  • abnormal postnatal growth / MGI
  • reduced fertility / MGI
  • respiratory failure / MGI
  • abnormal vibrissa morphology / MGI
  • abnormal tooth morphology / MGI
  • abnormal digit morphology / MGI
  • abnormal tail morphology / MGI
  • brachydactyly / MGI
  • abnormal enamel morphology / MGI
  • single kidney / MGI
  • nervous system phenotype / MGI
  • small lung / MGI
  • abnormal hair follicle development / MGI
  • polysyndactyly / MGI
  • abnormal spine curvature / MGI
  • fused metacarpal bones / MGI
  • fused metatarsal bones / MGI
  • impaired branching involved in ureteric bud morphogenesis / MGI
  • abnormal incisor morphology / MGI
  • craniofacial phenotype / MGI
  • abnormal ureteric bud morphology / MGI
  • supernumerary incisors / MGI
  • fused phalanges / MGI
  • abnormal ureteric bud invasion / MGI
  • neonatal lethality, complete penetrance / MGI
  • perinatal lethality, complete penetrance / MGI
  • preweaning lethality, incomplete penetrance / MGI
  • ureter hypoplasia / MGI
  • absent metanephric mesenchyme / MGI
  • abnormal mammary gland bud morphology / MGI
  • abnormal molar cusp morphology / MGI

Literature references

  • The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.;Boudin Eveline, Yorgan Timur, Fijalkowski Igor, Sonntag Stephan, Steenackers Ellen, Hendrickx Gretl, Peeters Silke, De Maré Annelies, Vervaet Benjamin, Verhulst Anja, Mortier Geert, D'Haese Patrick, Schinke Thorsten, Van Hul Wim, ;2017;Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research;32;1739-1749; 28477420

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Order

Availabilities

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

  • Frozen sperm. 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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