- 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
B6(Cg)-Lrp4tm1.1Pg/Orl
| Status | Available to order |
| EMMA ID | EM:11342 |
| Citation information | RRID: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 name | B6(Cg)-Lrp4tm1.1Pg/Orl |
| Alternative name | C57BL/6N-Lrp4R1170Q |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Lrp4tm1.1Pg |
| Gene/Transgene symbol | Lrp4 |
Information from provider
| Provider | Eveline Boudin |
| Provider affiliation | Center of Medical Genetics, University of Antwerp |
| Genetic information | Introduction of the p. R1170Q mutation (c. G3509A) in the mouse Lrp4 gene. |
| Phenotypic information | Homozygous: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 |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6N males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Cenani-Lenz syndrome / Orphanet_3258
- Postsynaptic congenital myasthenic syndromes / Orphanet_98913
- Sclerosteosis / Orphanet_3152
MGI phenotypes (gene matching)
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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