Phenotypes Associated with This Genotype

Genotype
MGI:6258769

• Allelic Composition: Adamts10^em1Cbal/Adamts10^em1Cbal
• Genetic Background: involves: C57BL/6 * C57BL/6J * DBA/2

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

growth/size/body

decreased body size ( J:266801 )

• mice are smaller at 4 weeks and 3 months of age

decreased body weight ( J:266801 )

decreased body length ( J:266801 )

integument

abnormal epidermal-dermal junction morphology ( J:266801 )

• mice exhibit convolution at the dermal-epidermal junction

thick skin ( J:266801 )

• mice show an increase in skin thickness

muscle

abnormal skeletal muscle morphology ( J:266801 )

• muscle cells have enlarged abnormal mitochondria, suggesting muscle damage and/or remodeling

decreased skeletal muscle fiber size ( J:266801 )

• skeletal muscle myofibers are smaller

increased skeletal muscle fiber number ( J:266801 )

• skeletal muscle has increased number of myofibers and increased nuclei

increased skeletal muscle mass ( J:266801 )

• 4 week old mice show increased skeletal muscle mass

skeleton

abnormal long bone epiphyseal plate morphology ( J:266801 )

• growth plate shows a normal structure but has shorter resting zone and expanded hypertrophic zone, indicative of altered bone development

abnormal long bone epiphyseal plate proliferative zone ( J:266801 )

• cell proliferation within the proliferative zone of the growth plate is increased in 3 week old mice

increased width of hypertrophic chondrocyte zone ( J:266801 )

decreased length of long bones ( J:266801 )

• long bones are 6-10% shorter

vision/eye

abnormal ciliary body morphology ( J:266801 )

• the ciliary body is disrupted, with changes in the number and shape of the ciliary processes and a reduction in the area of the ciliary apparatus

• the ciliary body is smaller and has fewer ciliary processes

• the ciliary body seems to be joined to, or is closer to, the retina

abnormal ciliary process morphology ( J:266801 )

• the ciliary body has fewer ciliary processes and shows changes in the shape of the ciliary processes

abnormal cilary zonule morphology ( J:266801 )

• ciliary zonule is altered, with mice having more microfibril bundles in the ciliary zonule adjacent to the ciliary body

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:266801