Phenotypes Associated with This Genotype

Genotype
MGI:6378827

• Allelic Composition: Adamtsl2^{tm1c(KOMP)Wtsi}/Adamtsl2^{tm1c(KOMP)Wtsi}; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: B6.Cg-Adamtsl2^{tm1c(KOMP)Wtsi} Tg(Prrx1-cre)1Cjt

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

limbs/digits/tail

abnormal autopod morphology ( J:280264 )

• distal bones are disproportionately shorter (acromelic dysplasia)

abnormal limb bone morphology ( J:280264 )

• all forelimb bones are reduced in length and the diaphyseal and metaphyseal regions of forelimb bones are wider

• hind limb bones are shorter and their diaphyseal and metaphyseal regions are wider

• in mice older than 9 months, bone shortening persists in metatarsals and the tibia, but not in the forelimb (metacarpals, humerus, radius, ulna)

• however, no abnormalities in the growth plate are seen and no difference in collagens or proteoglycans are seen

short radius ( J:280264 )

• radii are shorter at birth but this shortening does not persist in mice older than 9 months

• however, no differences in the length of metacarpals and the ulna are seen at P0

short tibia ( J:280264 )

• short tibia in P18 mice and bone shortening persists in the tibia in mice older than 9 months of age

short metatarsal bones ( J:280264 )

• metatarsals are shorter at birth and this bone shortening persists in mice older than 9 months

muscle

abnormal calcaneal tendon morphology ( J:280264 )

• Achilles tendon is shorter and wider and its origin from the gastrocnemius is poorly defined

• Achilles tendons are tethered to surrounding tissue, similar to severe peri-tendon fibrosis

• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon

• tendons show disorganization of linear tenocyte arrays

abnormal tendon cell morphology ( J:280264 )

• shape of tenocytes is irregular

abnormal tendon collagen fibril morphology ( J:280264 )

• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon

• tendons show disarray of collagen fiber orientation, with no changes in the directionality but an increase in the dispersion, indicating a wider range of directional angles

skeleton

abnormal limb bone morphology ( J:280264 )

• all forelimb bones are reduced in length and the diaphyseal and metaphyseal regions of forelimb bones are wider

• hind limb bones are shorter and their diaphyseal and metaphyseal regions are wider

• in mice older than 9 months, bone shortening persists in metatarsals and the tibia, but not in the forelimb (metacarpals, humerus, radius, ulna)

• however, no abnormalities in the growth plate are seen and no difference in collagens or proteoglycans are seen

short radius ( J:280264 )

• radii are shorter at birth but this shortening does not persist in mice older than 9 months

• however, no differences in the length of metacarpals and the ulna are seen at P0

short tibia ( J:280264 )

• short tibia in P18 mice and bone shortening persists in the tibia in mice older than 9 months of age

short metatarsal bones ( J:280264 )

• metatarsals are shorter at birth and this bone shortening persists in mice older than 9 months

abnormal calcaneal tendon morphology ( J:280264 )

• Achilles tendon is shorter and wider and its origin from the gastrocnemius is poorly defined

• Achilles tendons are tethered to surrounding tissue, similar to severe peri-tendon fibrosis

• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon

• tendons show disorganization of linear tenocyte arrays

abnormal tendon cell morphology ( J:280264 )

• shape of tenocytes is irregular

abnormal tendon collagen fibril morphology ( J:280264 )

• the distribution of collagen fibril diameter is skewed toward larger fibrils in Achilles tendon

• tendons show disarray of collagen fiber orientation, with no changes in the directionality but an increase in the dispersion, indicating a wider range of directional angles

abnormal long bone diaphysis morphology ( J:280264 )

• P16-P20 long bone diaphysis are less sculpted, lacking the characteristic narrowing in the central regions of the diaphysis and have a stubby appearance, most noticeable in the metacarpals and metatarsals

• - the diaphyseal regions of forelimb and hind limb bones are wider

abnormal long bone metaphysis morphology ( J:280264 )

• the metaphyseal regions of forelimb and hind limb bones are wider

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
geleophysic dysplasia 1		DOID:0111725	OMIM:231050	J:280264