IMPC phenotypes (gene 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 |
|
| 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
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- paralysis / MGI
- hemorrhage / MGI
- abnormal motor capabilities/coordination/movement / MGI
- premature death / MGI
- no phenotypic analysis / MGI
- aortic dissection / MGI
- hypotonia / MGI
- abnormal cutaneous collagen fibril morphology / MGI
- abnormal aorta smooth muscle morphology / MGI
- abnormal aorta wall morphology / MGI
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
- Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER.;Ishikawa Yoshihiro, Taga Yuki, Zientek Keith, Mizuno Nobuyo, Salo Antti M, Semenova Olesya, Tufa Sara F, Keene Douglas R, Holden Paul, Mizuno Kazunori, Gould Douglas B, Myllyharju Johanna, Bächinger Hans Peter, ;2021;The Journal of biological chemistry;296;100453; 33631195