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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hsf4ldis1
lens disruptor 1
MGI:3056560
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hsf4ldis1/Hsf4ldis1 either: RIIIS/J or (involves: DBA/2J * RIIIS/J) MGI:3056816
hm2
Hsf4ldis1/Hsf4ldis1 involves: C57BL/6 * CAST/EiJ * RIIIS/J MGI:5305581


Genotype
MGI:3056816
hm1
Allelic
Composition
Hsf4ldis1/Hsf4ldis1
Genetic
Background
either: RIIIS/J or (involves: DBA/2J * RIIIS/J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf4ldis1 mutation (0 available); any Hsf4 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• epithelial cells that normally terminate at the lens equator often extend all the way around the lens
• 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
• cataracts with cortical and nuclear manifestations are seen
• at 9 weeks of age the intraocular lenses are dislocated temporally
• lens weight is reduced compared to DBA/2J wild-type mice
• eye size and weight are significantly smaller than DBA/2J wild-type mice




Genotype
MGI:5305581
hm2
Allelic
Composition
Hsf4ldis1/Hsf4ldis1
Genetic
Background
involves: C57BL/6 * CAST/EiJ * RIIIS/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf4ldis1 mutation (0 available); any Hsf4 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
OMIM ID Ref(s)
Cataract 5, Multiple Types; CTRCT5 116800 J:179658





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory