C3;CAnN-Lmx1b^Icst/H

Status	Available to order
EMMA ID	EM:00114
Citation information	RRID:IMSR_EM:00114 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	C3;CAnN-Lmx1b^Icst/H
Alternative name	Icst
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Lmx1b^Icst
Gene/Transgene symbol	Lmx1b

Information from provider

Provider	Pat Nolan
Provider affiliation	MRC Mammalian Genetics Unit
Phenotypic information	Iris-corneal strands, abnormal gait.
References	Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848 A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].;Cross Sally H, Macalinao Danilo G, McKie Lisa, Rose Lorraine, Kearney Alison L, Rainger Joe, Thaung Caroline, Keighren Margaret, Jadeja Shalini, West Katrine, Kneeland Stephen C, Smith Richard S, Howell Gareth R, Young Fiona, Robertson Morag, van T' Hof Rob, John Simon W M, Jackson Ian J, ;2014;PLoS genetics;10;e1004359; 24809698

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Nail-patella-like renal disease / Orphanet_2613
Nail-patella syndrome / Orphanet_2614

MGI phenotypes (allele matching)

macrophthalmia / MGI
corneal opacity / MGI
corneal scarring / MGI
irregularly shaped pupil / MGI
abnormal iris morphology / MGI
abnormal optic nerve morphology / MGI
abnormal eye morphology / MGI
abnormal iridocorneal angle / MGI
abnormal Descemet membrane / MGI
ocular hypertension / MGI
abnormal corneal endothelium morphology / MGI
abnormal renal glomerulus morphology / MGI
corneal vascularization / MGI
buphthalmos / MGI
cornea ulcer / MGI
perinatal lethality, incomplete penetrance / MGI
anterior iris synechia / MGI
absent cerebellum / MGI
abnormal kidney morphology / MGI
abnormal podocyte morphology / MGI
perinatal lethality, complete penetrance / MGI
abnormal limb position / MGI

MGI phenotypes (gene matching)

abnormal interparietal bone morphology / MGI
abnormal fontanelle morphology / MGI
abnormal cartilage development / MGI
abnormal cerebral cortex morphology / MGI
abnormal cerebellum morphology / MGI
absent cerebellum / MGI
small cerebellum / MGI
abnormal superior colliculus morphology / MGI
abnormal brain development / MGI
decreased motor neuron number / MGI
abnormal sensory neuron innervation pattern / MGI
macrophthalmia / MGI
microphthalmia / MGI
abnormal cornea morphology / MGI
corneal opacity / MGI
corneal scarring / MGI
irregularly shaped pupil / MGI
abnormal iris morphology / MGI
abnormal optic nerve morphology / MGI
abnormal suckling behavior / MGI
abnormal developmental patterning / MGI
abnormal eye morphology / MGI
abnormal kidney morphology / MGI
no abnormal phenotype detected / MGI
abnormal cranial suture morphology / MGI
abnormal neuron morphology / MGI
decreased superior colliculus size / MGI
small kidney / MGI
no phenotypic analysis / MGI
abnormal lens epithelium morphology / MGI
abnormal dopaminergic neuron morphology / MGI
abnormal midbrain-hindbrain boundary development / MGI
abnormal iridocorneal angle / MGI
abnormal Descemet membrane / MGI
small scapula / MGI
absent ulna / MGI
absent supraoccipital bone / MGI
abnormal pectoral girdle bone morphology / MGI
absent ilium / MGI
absent patella / MGI
decreased neuronal precursor cell number / MGI
abnormal ciliary body morphology / MGI
abnormal anterior eye segment morphology / MGI
abnormal eye anterior chamber morphology / MGI
abnormal iris stroma morphology / MGI
ocular hypertension / MGI
abnormal clavicle morphology / MGI
abnormal corneal stroma morphology / MGI
abnormal corneal endothelium morphology / MGI
abnormal renal glomerulus morphology / MGI
abnormal podocyte morphology / MGI
corneal vascularization / MGI
abnormal tectum morphology / MGI
small tectum / MGI
iris stroma hypoplasia / MGI
abnormal limb development / MGI
abnormal podocyte foot process morphology / MGI
absent podocyte slit diaphragm / MGI
absent podocyte foot process / MGI
absence of all nails / MGI
increased neuron number / MGI
buphthalmos / MGI
abnormal pretectal region morphology / MGI
cornea ulcer / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
abnormal glomerular capillary morphology / MGI
abnormal renal glomerulus basement membrane morphology / MGI
increased renal glomerulus basement membrane thickness / MGI
abnormal glomerular capillary endothelium morphology / MGI
absent glomerular endothelium fenestra / MGI
anterior iris synechia / MGI
abnormal limb position / MGI
absent midbrain-hindbrain boundary / MGI
decreased rhombomere 1 size / MGI
ciliary body hypoplasia / MGI

Literature references

Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].;Cross Sally H, Macalinao Danilo G, McKie Lisa, Rose Lorraine, Kearney Alison L, Rainger Joe, Thaung Caroline, Keighren Margaret, Jadeja Shalini, West Katrine, Kneeland Stephen C, Smith Richard S, Howell Gareth R, Young Fiona, Robertson Morag, van T' Hof Rob, John Simon W M, Jackson Ian J, ;2014;PLoS genetics;10;e1004359; 24809698

Information on how we integrate external resources can be found here

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^*
Tissue - Types of tissue, service fee and delivery time available upon request

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

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

Material Transfer Agreement (MTA)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

Right strain for your research?

The information provided on this page is, to the best of EMMA’s knowledge, based on data supplied by the original provider. End users are responsible for reviewing these details and for validating the strain and its suitability for their experimental use.
Not found what you were looking for? Search here for other strains available from EMMA.

C3;CAnN-Lmx1bIcst/H