Phenotypes associated with this allele

• Allele Symbol: Tg(Pax6-GFP/cre)1Rilm
• Allele Name: transgene insertion 1, Richard L Maas
• Allele ID: MGI:5538391
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lss^tm1c(KOMP)Wtsi/Lss^tm1c(KOMP)Wtsi Tg(Pax6-GFP/cre)1Rilm/0	involves: C57BL/6 * C57BL/6NTac * FVB/N	MGI:8434074
cn2	Caprin2^tm2a(EUCOMM)Wtsi/Caprin2^tm2a(EUCOMM)Wtsi Tg(Pax6-GFP/cre)1Rilm/0	involves: C57BL/6J * C57BL/6NTac * FVB/N	MGI:5766358
tg3	Tg(Pax6-GFP/cre)1Rilm/0	involves: FVB/N	MGI:5766450

Genotype
MGI:8434074

cn1

• Allelic Composition: Lss^{tm1c(KOMP)Wtsi}/Lss^{tm1c(KOMP)Wtsi}; Tg(Pax6-GFP/cre)1Rilm/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

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

vision/eye

decreased retina ganglion cell number ( J:286778 )

abnormal lens morphology ( J:286778 )

• lens swelling, lens degeneration, and lens liquefaction

• (S)-2,3-epoxysqualene, lanosterol, squalene, and cholesterol are not detected in the lenses

cataract ( J:286778 )

• small cloudy lenses

microphthalmia ( J:286778 )

thin retina ganglion layer ( J:286778 )

thin retina inner nuclear layer ( J:286778 )

nervous system

decreased retina ganglion cell number ( J:286778 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 44		DOID:0110267	OMIM:616509	J:286778

Genotype
MGI:5766358

cn2

• Allelic Composition: Caprin2^{tm2a(EUCOMM)Wtsi}/Caprin2^{tm2a(EUCOMM)Wtsi}; Tg(Pax6-GFP/cre)1Rilm/0
• Genetic Background: involves: C57BL/6J * C57BL/6NTac * FVB/N
• Cell Lines: EPD0069_4_C02

vision/eye

cornea opacity ( J:225905 )

• 8% of mutant eyes display corneal opacities at variable intensities

abnormal lens morphology ( J:225905 )

• at P60, 60% of mutant lenses show subtle abnormalities near the putative cortical-nuclear boundary

• however, no lens opacities or overt cataracts are detected in most lenses even at the age of 6 months

corneal-lenticular stalk ( J:225905 )

• 8% (9 of 108) of mutant eyes with corneal or lens opacities also display a persistent lenti-corneal stalk, similar to Peters anomaly

• 8 of 108 mutant eyes showed a lenti-corneal stalk in a unilateral manner; one mutant exhibited this defect in both eyes

abnormal lens fiber morphology ( J:225905 )

• at P60, bright field imaging revealed that a ring-like demarcation between the cortical and nuclear fiber cells is absent in most mutant lenses, unlike in control lenses

• at P30, SEM analysis showed that deep into the lens tissue mutant lenses display cortical fiber cell morphology in place of nuclear fibers

• at P0, wheat germ agglutinin (WGA) staining revealed a significantly reduced lens nucleus region relative to controls, suggesting fiber cell nuclear compaction defects

• at E12.5, E14.5 and E16.5, WGA staining intensity is higher in mutant lenses relative to control lenses, suggesting altered fiber cell membrane composition

• however, histological analysis revealed no obvious fiber cell or nuclear degradation defects at P30

• F-actin deposition is unaltered as shown by phalloidin immunostaining, suggesting normal fiber cell architecture

• no defects in lens epithelium, fiber or cell adhesion marker genes are noted at embryonic or postnatal stages

cataract ( J:225905 )

• 8% of mutant eyes display lens opacities at variable intensities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters anomaly		DOID:0060673		J:225905

Genotype
MGI:5766450

tg3

• Allelic Composition: Tg(Pax6-GFP/cre)1Rilm/0
• Genetic Background: involves: FVB/N

vision/eye

vision/eye phenotype ( J:225905 )

N • mice do not exhibit any ocular defects over an observation period of 6 months