Phenotypes associated with this allele

• Allele Symbol: Adamts10^em1Jku
• Allele Name: endonuclease-mediated mutation 1, John Kuchtey
• Allele ID: MGI:6783437
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adamts10^em1Jku/Adamts10^em1Jku	C57BL/6J-Adamts10^em1Jku	MGI:6783439

Genotype
MGI:6783439

hm1

• Allelic Composition: Adamts10^em1Jku/Adamts10^em1Jku
• Genetic Background: C57BL/6J-Adamts10^em1Jku

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

growth/size/body

decreased body size ( J:311879 )

decreased body weight ( J:311879 )

• although body weight is not different at 3 months, males are 9.1% lighter and females are 17.7% lighter than wild-type mice at 24 months of age

decreased body length ( J:311879 )

• body lengths of males are 3.8% and 7.2% shorter compared to wild-type mice at 3 and 24 months of age, respectively

• body lengths of females are 5.4% and 8.3% shorter at 3 and 24 months of age, respectively

vision/eye

vision/eye phenotype ( J:311879 )

N • retinal layers are intact at 3, 6, and 24 months of age and diurnal and nocturnal intraocular pressure at 3, 6, and 24 months of age does not differ from wild-type mice

abnormal cilary zonule morphology ( J:311879 )

• mice show persistent fibrillin-2 and enhanced fibrillin-1 immunofluorescence in the lens zonules, indicating perturbed regulation of fibrillin isotype composition of microfibrils in the eye

increased cornea thickness ( J:311879 )

• central corneal thickness at 3 months of age is 5.4% thicker and is 8.5% thicker at 24 months of age

• however, central corneal thickness does not significantly change from 3 to 24 months of age

decreased eye anterior chamber depth ( J:311879 )

• the anterior chamber depth of the eye is 5.4% and 5% shallower at 3 months and 24 months of age, respectively

• however, no differences in axial length of the eye at 6 or 24 months of age, indicating that the shallower anterior chamber depth of the eye is not due to reduced eye size

• thickening of the central corneal thickness is considerably less than the reduction of anterior chamber depth of the eye, indicating that anterior displacement of the lens likely contributes to reduction of the anterior chamber depth of the eye

abnormal vitreous body morphology ( J:311879 )

• mice show persistent fibrillin-2 and enhanced fibrillin-1 immunofluorescence in the hyaloid vasculature and its remnants in the vitreous, indicating perturbed regulation of fibrillin isotype composition of microfibrils in the eye

mortality/aging

mortality/aging ( J:311879 )

N • mice exhibit a normal life span

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weill-Marchesani syndrome		DOID:0050475	OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 OMIM:PS277600	J:311879