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Allele Symbol Allele Name Allele ID |
Tg(Lhx2-cre)1Lcar transgene insertion 1, Leif Carlsson MGI:5300954 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• vesicle development is normal to E9.5, although the number of apoptotic cells is increased
• degeneration of the optic vesicle is detected at E11.5; by E12.5, all neural structures in the eye are absent with no detectable lens structure
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: anterior segment phenotype is severe and fully penetrant compared to a variable phenotype on a mixed background containing NMRI
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• the ciliary body is hypotrophic with a lack of ciliary processes at P18
• ciliary body structure lacks well-defined ciliary processes with the pigmented ciliary epithelium (PCE) and non-pigmented ciliary epithelia (NCE) appearing to coalesce
• Background Sensitivity: the ciliary body phenotype is fully penetrant on this background compared to a variable phenotype on a mixed background containing NMRI
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• the iris exhibits a thickened club-like appearance with atrophic sphincter pupillae instead of an elongated oval structure
• the iris is hypotrophic with a lack of iris extension at P18
• Background Sensitivity: the iris phenotype is fully penetrant on this background compared to a variable phenotype on a mixed background containing NMRI
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• seen in P15 mice
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• shorter cornea and reduced curvature of the cornea
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• anterior eye chamber is reduced in volume
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• the ciliary body and iris fail to undergo morphogenesis as indicated by the absence of ciliary processes and lack of iris extension
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• ciliary margin length is shorter at E18.5 and exhibits a reduced rate of progenitor cell proliferation at E18.5
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• posterior eye segment is larger
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| anterior segment dysgenesis | DOID:0060648 |
OMIM:PS107250 |
J:239666 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the iris pigment epithelium appears irregular and disorganized
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• Background Sensitivity: severity of anterior segment phenotype is variable, albeit with full penetrance, on a mixed background containing NMRI compared to severe phentoype on a mixed background without NMRI
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• ciliary body is hypotrophic, with ciliary processes in some eyes being underdeveloped, whereas other eyes have barely detectable ciliary processes
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• mice exhibit a disorganized Pax6+ ciliary epithelia that results in indistinct ciliary processes
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• iris exhibits an atrophic sphincter pupillae and size and position of the sphincter pupillae is variable
• the iris appears as a shortened structure completely lacking a dilator pupillae in some animals while normal iris extension is seen in other animals although with dilator pupillae atrophy
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• the iris pigment epithelium appears irregular and disorganized
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/02/2024 MGI 6.24 |
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