- microphthalmia / IMPC
- abnormal craniofacial morphology / IMPC
- increased circulating alkaline phosphatase level / IMPC
- abnormal embryo size / IMPC
- abnormal limb bud morphology / IMPC
- abnormal forebrain morphology / IMPC
- hemorrhage / IMPC
- preweaning lethality, complete penetrance / IMPC
- abnormal lens morphology / IMPC
- increased heart weight / IMPC
B6.129P2-Lrp1tm6Ajmr/Orl
| Status | Available to order |
| EMMA ID | EM:05278 |
| Citation information | RRID:IMSR_EM:05278 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 | B6.129P2-Lrp1tm6Ajmr/Orl |
| Alternative name | Lrp1 knock-in mutant with stop codon introduced before distal NPXYXXL motif |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Lrp1tm6Ajmr |
| Gene/Transgene symbol | Lrp1 |
Information from provider
| Provider | Anton Roebroek |
| Provider affiliation | Human Genetics, K.U. Leuven |
| Genetic information | Lrp1 knock-in mouse carrying mutant Lrp1 cDNA sequences in the 3' end of the gene replacing the corresponding genomic sequences: no intron 76 to intron 88 sequences present. The mutations are introduced to generate a stop codon in front of the distal NPXYXXL (NPXY2) motif of the intracellular domain of LRP1 (PTNFTNPVYATL -> PTNFT*). The Lrp1 knock-in allele was generated by application of recombinase mediated cassette exchange (RMCE) in a ES cell line carrying an exchangeable cassette with a selection marker in the Lrp1 gene replacing the 3' end exons (exons 76 to 89) of the gene. By application of RMCE the Lrp1 gene was functionally restored by wild-type or mutant Lrp1 cDNA sequences resulting in a series of Lrp1 knock-in mutant alleles and mice including the Lrp1 knock-in mutant with a stop codon introduced in front of the NPXYXXL (NPXY2) motif. |
| Phenotypic information | 1. Initial analysis (unpublished): normal phenotype: no abnormal phenotype detected: mice are viable and apparently indistinguishable from wild-type mice, fertility appears to be somehow reduced. 2. Analysis after cross into LDLR-deficient background (unpublished): enhanced atherosclerosis. |
| Breeding history | Backcrossed 8 times to C57BL/6, only heterozygous mice available. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6J males, wild-type C57BL/6J females |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Atrophoderma vermiculata / Orphanet_79100
- Keratosis follicularis spinulosa decalvans / Orphanet_2340
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal liver morphology / MGI
- decreased hepatocyte number / MGI
- herniated abdominal wall / MGI
- internal hemorrhage / MGI
- no abnormal phenotype detected / MGI
- persistent truncus arteriosis / MGI
- omphalocele / MGI
- liver degeneration / MGI
- abnormal body wall morphology / MGI
- diaphragmatic hernia / MGI
- embryonic growth retardation / MGI
- abnormal liver perisinusoidal space morphology / MGI
- abnormal heart ventricle outflow tract morphology / MGI
- atrioventricular septal defect / MGI
- perinatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
Literature references
- Mutant Lrp1 knock-in mice generated by recombinase-mediated cassette exchange reveal differential importance of the NPXY motifs in the intracellular domain of LRP1 for normal fetal development.;Roebroek Anton J M, Reekmans Sara, Lauwers Annick, Feyaerts Nathalie, Smeijers Liesbet, Hartmann Dieter, ;2006;Molecular and cellular biology;26;605-16; 16382151
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