MGI phenotypes (allele matching)
B6.129S6-Plod1tm1Soin/Oulu
| Status | Available to order |
| EMMA ID | EM:08327 |
| International strain name | B6.129S6-Plod1tm1Soin/Oulu |
| Alternative name | Plod1(tm1Soin), lysyl hydoxylase 1 knock-out |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Plod1tm1Soin, |
| Gene/Transgene symbol | Plod1 |
Information from provider
| Provider | Johanna Myllyharju |
| Provider affiliation | Faculty of Biochemistry and Molecular Medicine, University of Oulu |
| Genetic information | Homologous recombination in ES cells led to deletion of exons 3-6 and insertion of a lacZ-neo cassette in-frame into exon 2 of the lysyl hydroxylase 1 gene (Plod1), so that 129 bp of Plod1 5' sequence was fused to the lacZ gene, followed by a stop codon and polyA sequence. |
| Phenotypic information | Homozygous:Aortic dissection; hypotonia; abnormal motor capabilities; abnormal aorta wall morphology; abnormal cutaneous collagen fibril morphology due to altered collagen fibril crosslinking.Heterozygous:Lysyl hydroxylase activity in aorta and skin about 50% of wild-type. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
| Animals used for archiving | homozygous C57BL/6JOlaHsd, wild-type C57BL/6JOlaHsd |
| Stage of embryos | Morula |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency / Orphanet_1900
Literature references
- Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.;Takaluoma Kati, Hyry Marjo, Lantto Juha, Sormunen Raija, Bank Ruud A, Kivirikko Kari I, Myllyharju Johanna, Soininen Raija, ;2007;The Journal of biological chemistry;282;6588-96; 17197443