- abnormal retina vasculature morphology / IMPC
- abnormal optic disk morphology / IMPC
- increased vertical activity / IMPC
- abnormal placement of pupils / IMPC
- decreased circulating HDL cholesterol level / IMPC
- abnormal lens morphology / IMPC
- increased circulating free fatty acids level / IMPC
- abnormal retina blood vessel morphology / IMPC
- decreased circulating glucose level / IMPC
- hyperactivity / IMPC
- increased circulating triglyceride level / IMPC
- irregularly shaped pupil / IMPC
- abnormal iris pigmentation / IMPC
- abnormal retina morphology / IMPC
- increased fasting circulating glucose level / IMPC
FVB.Cg-Col18a1tm1Pih/Oulu
| Status | Available to order |
| EMMA ID | EM:15977 |
| Citation information | RRID:IMSR_EM:15977 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 | FVB.Cg-Col18a1tm1Pih/Oulu |
| Alternative name | Col18a1tm1Pih; Col18a1-P1 |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Col18a1tm1Pih |
| Gene/Transgene symbol | Col18a1 |
Information from provider
| Provider | Taina Pihlajaniemi |
| Provider affiliation | Faculty of Biochemistry and Molecular Medicine, University of Oulu |
| Genetic information | Exon 1 of Col18a1 was deleted to form a promoter 1 (P1)-specific knockout in which the short collagen XVIII isoform is inactivated while the medium and long collagen XVIII isoforms are expressed. |
| Phenotypic information | Homozygous:Phenotypic characterization of the Col18a1-P1 FVB/N mice has not been done. Breast cancer growth and metastasis is significantly reduced in the Col18a1-P1 FVB/N null mice crossed with the MMTV-PyMT (Tg(MMTV-PyVT)634Mul, MGI:2679595) transgenic model. The FVB/N background might be useful e.g. in some cancer models such as DMBA-TPA induced skin carcinogenesis which does not work well in the C57BL/6 background, or with the MMVT-PyMT model as we have used.Heterozygous:Heterozygous mice are normal. |
| Breeding history | Gene targeting was performed in 129/Sv embryonic stem cells and the resulting mice were backcrossed at least 10 times to C57BL/6JOlaHsd background and further to FVB/NCrl background for 8 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | University of Oulu, Oulu, Finland |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Knobloch syndrome / Orphanet_1571
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- abnormal cranium morphology / MGI
- enlarged cranium / MGI
- abnormal choroid plexus morphology / MGI
- dilated lateral ventricles / MGI
- dilated third ventricle / MGI
- dilated fourth ventricle / MGI
- persistence of hyaloid vascular system / MGI
- abnormal pupil morphology / MGI
- abnormal iris morphology / MGI
- abnormal retina morphology / MGI
- increased circulating triglyceride level / MGI
- abnormal circulating enzyme level / MGI
- hydroencephaly / MGI
- intracranial hemorrhage / MGI
- neoplasm / MGI
- abnormal brain morphology / MGI
- abnormal tricuspid valve morphology / MGI
- abnormal vitreous body morphology / MGI
- abnormal retinal vasculature morphology / MGI
- increased circulating VLDL triglyceride level / MGI
- abnormal basement membrane morphology / MGI
- abnormal proximal convoluted tubule morphology / MGI
- abnormal ciliary body morphology / MGI
- abnormal iris pigment epithelium / MGI
- abnormal enzyme/coenzyme level / MGI
- abnormal renal glomerulus morphology / MGI
- renal/urinary system phenotype / MGI
- abnormal iris stromal pigmentation / MGI
- increased circulating creatinine level / MGI
- abnormal corneal epithelium morphology / MGI
- impaired lipolysis / MGI
- podocyte foot process effacement / MGI
- abnormal brain ependyma motile cilium morphology / MGI
- abnormal mesangial matrix morphology / MGI
- expanded mesangial matrix / MGI
- enlarged brain ventricles / MGI
Literature references
- Targeting collagen XVIII improves the efficiency of ErbB inhibitors in breast cancer models.;Devarajan Raman, Izzi Valerio, Peltoketo Hellevi, Rask Gunilla, Kauppila Saila, Väisänen Marja-Riitta, Ruotsalainen Heli, Martínez-Nieto Guillermo, Karppinen Sanna-Maria, Väisänen Timo, Kaur Inderjeet, Koivunen Jussi, Sasaki Takako, Winqvist Robert, Manninen Aki, Wärnberg Fredrik, Sund Malin, Pihlajaniemi Taina, Heljasvaara Ritva, ;2023;The Journal of clinical investigation;133;; 37498672
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