- 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
C3;CAnN-Lmx1bIcst/H
Status | Available to order |
EMMA ID | EM:00114 |
International strain name | C3;CAnN-Lmx1bIcst/H |
Alternative name | Icst |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Lmx1bIcst, |
Gene/Transgene symbol | Lmx1b |
Information from provider
Provider | Pat Nolan |
Provider affiliation | MRC Mammalian Genetics Unit |
Phenotypic information | Iris-corneal strands, abnormal gait. |
References |
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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)
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
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