129S/Sv-Lrp4dan/Orl
| Status | Available to order |
| EMMA ID | EM:02016 |
| Citation information | RRID:IMSR_EM:02016 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 | 129S/Sv-Lrp4dan/Orl |
| Alternative name | Abnormal digitation |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Lrp4dan |
| Gene/Transgene symbol | Lrp4 |
Information from provider
| Provider | Jean-Louis Guénet |
| Provider affiliation | Institut Pasteur |
| Genetic information | Proviral copy of defective strain of Moloney retrovirus inserted in Lrp4 gene and resulting in a knock-out allele of Lrp4. |
| Phenotypic information | Abnormal limb development: polysyndactyly in fore- and hind-limbs. Mice are smaller and runted. Homozygous females do not breed that well. Embryos have been obtained with heterozygous males and wild-type females. |
| References |
|
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
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 (allele 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
- Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice.;Johnson Eric B, Hammer Robert E, Herz Joachim, ;2005;Human molecular genetics;14;3523-38; 16207730
- Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse.;Simon-Chazottes Dominique, Tutois Sylvie, Kuehn Michael, Evans Martin, Bourgade Franck, Cook Sue, Davisson Muriel T, Guénet Jean-Louis, ;2006;Genomics;87;673-7; 16517118
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).
