Phenotypes Associated with This Genotype

Genotype
MGI:6295837

• Allelic Composition: Tsc1^tm1Djk/Tsc1^tm1Djk; Tg(Lhx2-cre)1Lcar/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal anterior eye segment morphology ( J:239666 )

• Background Sensitivity: anterior segment phenotype is severe and fully penetrant compared to a variable phenotype on a mixed background containing NMRI

abnormal ciliary body morphology ( J:239666 )

• 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

abnormal iris morphology ( J:239666 )

• 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

mydriasis ( J:239666 )

• 2-fold enlargement of the centrally located pupil

iris hypoplasia ( J:239666 )

• seen in P15 mice

abnormal cornea morphology ( J:239666 )

• shorter cornea and reduced curvature of the cornea

abnormal eye anterior chamber morphology ( J:239666 )

• anterior eye chamber is reduced in volume

abnormal eye development ( J:239666 )

• the ciliary body and iris fail to undergo morphogenesis as indicated by the absence of ciliary processes and lack of iris extension

abnormal optic cup morphology ( J:239666 )

• ciliary margin length is shorter at E18.5 and exhibits a reduced rate of progenitor cell proliferation at E18.5

abnormal posterior eye segment morphology ( J:239666 )

• 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