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Phenotypes Associated with This Genotype
Genotype
MGI:6295837
Allelic
Composition
Tsc1tm1Djk/Tsc1tm1Djk
Tg(Lhx2-cre)1Lcar/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Lhx2-cre)1Lcar mutation (0 available)
Tsc1tm1Djk mutation (2 available); any Tsc1 mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: anterior segment phenotype is severe and fully penetrant compared to a variable phenotype on a mixed background containing NMRI
• 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
• 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
• 2-fold enlargement of the centrally located pupil
• seen in P15 mice
• shorter cornea and reduced curvature of the cornea
• anterior eye chamber is reduced in volume
• the ciliary body and iris fail to undergo morphogenesis as indicated by the absence of ciliary processes and lack of iris extension
• ciliary margin length is shorter at E18.5 and exhibits a reduced rate of progenitor cell proliferation at E18.5
• posterior eye segment is larger

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
anterior segment dysgenesis DOID:0060648 OMIM:PS107250
J:239666


Contributing Projects:
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
11/12/2024
MGI 6.24
The Jackson Laboratory