Phenotypes associated with this allele

• Allele Symbol: Hsf4^ldis1
• Allele Name: lens disruptor 1
• Allele ID: MGI:3056560
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hsf4^ldis1/Hsf4^ldis1	either: RIIIS/J or (involves: DBA/2J * RIIIS/J)	MGI:3056816
hm2	Hsf4^ldis1/Hsf4^ldis1	involves: C57BL/6 * CAST/EiJ * RIIIS/J	MGI:5305581

Genotype
MGI:3056816

hm1

• Allelic Composition: Hsf4^ldis1/Hsf4^ldis1
• Genetic Background: either: RIIIS/J or (involves: DBA/2J * RIIIS/J)

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

vision/eye

abnormal lens epithelium morphology ( J:93209 )

• epithelial cells that normally terminate at the lens equator often extend all the way around the lens

abnormal lens fiber morphology ( J:93209 )

• the lens capsule is disrupted allowing lens fibers to migrate behind the posterior lens capsule and nuclei of lens fibers are found throughout the lens unlike in DBA/2J wild-type mice

lens dislocation ( J:93209 )

• at 9 weeks of age the intraocular lenses are dislocated temporally

cataract ( J:93209 )

• cataracts with cortical and nuclear manifestations are seen

small lens ( J:93209 )

• lens weight is reduced compared to DBA/2J wild-type mice

microphthalmia ( J:93209 )

• eye size and weight are significantly smaller than DBA/2J wild-type mice

Genotype
MGI:5305581

hm2

• Allelic Composition: Hsf4^ldis1/Hsf4^ldis1
• Genetic Background: involves: C57BL/6 * CAST/EiJ * RIIIS/J

vision/eye

cataract ( J:179658 )

• persistence of nuclei in lens fiber cells as early as P0.5

• by P10-12, lenses develop severely vauolated cataracts often accompanied by rupture of the lens capsule and release of the lenticular material in the vitreous cavity, such that cataracts are visible upon eyelid opening between P12-14

• vacuoles are seen in the cortex and nucleus of the lens

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 5 multiple types		DOID:0110255	OMIM:116800	J:179658