Phenotypes Associated with This Genotype

Genotype
MGI:4365717

• Allelic Composition: Tg(Vim*R113C)1Tmm/0
• Genetic Background: B6.CBA-Tg(Vim*R113C)1Tmm

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

vision/eye

ruptured lens capsule ( J:145782 )

• aggregations lead to a posterior capsule rupture at the age of about 6 months, followed by protrusion of fiber cells into the posterior chamber

abnormal lens fiber morphology ( J:145782 )

• the plasma membrane of fiber cells is highly disorganized with multiple invaginations

• large aggregates start around 6 weeks of age in lens fiber cells

• prominent aggregates from 12 weeks onwards

• aggregates are not terminal but transient structures that ultimately become degraded, with an increase in Hsp70 and a 30% increase in proteasome activity

disorganized secondary lens fibers ( J:145782 )

• lenses are more fragile and display a disrupted fiber cell morphology

cataract ( J:145782 )

• turbid lenses and formation of posterior cataracts in adult mutant

cellular

abnormal cell morphology ( J:145782 )

• cytoplasmic protein inclusions formed that also contained endogenous protein

• transgenic protein is expressed appropriately in all mesenchymal cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 30		DOID:0110248	OMIM:116300	J:145782