FVB.129S4-Col18a1^tm1Hms/Oulu

Status	Available to order
EMMA ID	EM:11029
International strain name	FVB.129S4-Col18a1^tm1Hms/Oulu
Alternative name	Collagen XVIII knock-out mouse in FVB background
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Col18a1^tm1Hms,
Gene/Transgene symbol	Col18a1

Information from provider

Provider	Bjorn R. Olsen
Provider affiliation	Harvard School of Dental Medicine
Genetic information	A PGK/neo cassette replaces exons 17-38 of the endogenous locus. The insertion disrupts all variant forms from the locus.
Phenotypic information	Homozygous: Large eye volume and eye weight, change in intraocular pressure, phthisis bulbi by 9 months. Excessive material bulging from the anterior lens capsule of phthisic eyes, irregular vascularization on either the iris or the lens and occasional folds in the Descemet's membrane and haemorrhage. The null eye phenotype is significantly more severe in the FVB/N background than in the C57BL/6J background investigated previously. Heterozygous: Heterozygous mice are normal
Breeding history	Mice were generated using 129S4/SvJae ES cells and backcrossed for 7 generations with FVB mice.
References	Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.;Marneros Alexander G, Olsen Bjorn R, ;2003;Investigative ophthalmology & visual science;44;2367-72; 12766032 Lack of collagen XVIII/endostatin results in eye abnormalities.;Fukai Naomi, Eklund Lauri, Marneros Alexander G, Oh Suk Paul, Keene Douglas R, Tamarkin Lawrence, Niemelä Merja, Ilves Mika, Li En, Pihlajaniemi Taina, Olsen Bjorn R, ;2002;The EMBO journal;21;1535-44; 11927538 Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.;Aikio Mari, Hurskainen Merja, Brideau Gaëlle, Hägg Pasi, Sormunen Raija, Heljasvaara Ritva, Gould Douglas B, Pihlajaniemi Taina, ;2013;Investigative ophthalmology & visual science;54;7450-62; 24135756
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 0, wild-type 0
Stage of embryos	Morula

Disease and phenotype information

MGI allele-associated human disease models

pigment dispersion syndrome / DOID:0060680

Orphanet associated rare diseases, based on orthologous gene matching

Knobloch syndrome / Orphanet_1571

MGI phenotypes (allele matching)

abnormal pupil morphology / MGI
abnormal iris morphology / MGI
abnormal retina morphology / MGI
increased circulating triglyceride level / MGI
abnormal circulating enzyme level / MGI
neoplasm / MGI
abnormal retinal vasculature morphology / MGI
increased circulating VLDL triglyceride level / 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
abnormal corneal epithelium morphology / MGI
impaired lipolysis / MGI
podocyte foot process effacement / MGI
persistence of hyaloid vascular system / MGI
abnormal vitreous body morphology / MGI
abnormal basement membrane morphology / MGI
abnormal cranium morphology / MGI
enlarged cranium / MGI
abnormal choroid plexus morphology / MGI
dilated lateral ventricles / MGI
dilated third ventricle / MGI
dilated fourth ventricle / MGI
hydroencephaly / MGI
intracranial hemorrhage / MGI
abnormal brain morphology / MGI
abnormal tricuspid valve morphology / MGI
increased circulating creatinine level / MGI
abnormal brain ependyma motile cilium morphology / MGI
abnormal mesangial matrix morphology / MGI
expanded mesangial matrix / MGI
enlarged brain ventricles / MGI

Literature references

Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome.;Marneros Alexander G, Olsen Bjorn R, ;2003;Investigative ophthalmology & visual science;44;2367-72; 12766032
Lack of collagen XVIII/endostatin results in eye abnormalities.;Fukai Naomi, Eklund Lauri, Marneros Alexander G, Oh Suk Paul, Keene Douglas R, Tamarkin Lawrence, Niemelä Merja, Ilves Mika, Li En, Pihlajaniemi Taina, Olsen Bjorn R, ;2002;The EMBO journal;21;1535-44; 11927538
Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.;Aikio Mari, Hurskainen Merja, Brideau Gaëlle, Hägg Pasi, Sormunen Raija, Heljasvaara Ritva, Gould Douglas B, Pihlajaniemi Taina, ;2013;Investigative ophthalmology & visual science;54;7450-62; 24135756

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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FVB.129S4-Col18a1tm1Hms/Oulu