Symbol
Name
ID

Adamtsl2
ADAMTS-like 2
MGI:1925044

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

J-shaped sella turcica

Camptodactyly of finger

Hypoplasia of the capital femoral epiphysis

Irregular capital femoral epiphysis

Coxa valga

Short foot

Short metacarpals with rounded proximal ends

Short palm

Joint contracture of the hand

Wrist flexion contracture

Joint stiffness

Delayed skeletal maturation

Cone-shaped epiphysis

Short long bone

Pectus excavatum

Ovoid vertebral bodies

Platyspondyly

Osteopenia

Disease(s) Associated with ADAMTSL2

geleophysic dysplasia 1

Mouse Phenotypes

decreased cranium height

domed cranium

short humerus

short radius

short ulna

short tibia

abnormal limb bone morphology

short metatarsal bones

abnormal calcaneal tendon morphology

abnormal tendon cell morphology

abnormal tendon collagen fibril morphology

abnormal long bone diaphysis morphology

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal plate proliferative zone

decreased width of hypertrophic chondrocyte zone

decreased long bone epiphyseal plate size

abnormal long bone metaphysis morphology

decreased length of long bones

abnormal axial skeleton morphology

abnormal trabecular bone morphology

abnormal cartilage development

Availability

Mouse Genotype

Adamtsl2^stb/Adamtsl2^stb

Adamtsl2^{tm1c(KOMP)Wtsi}/Adamtsl2^{tm1c(KOMP)Wtsi}
Tg(Prrx1-cre)1Cjt/0 (conditional)

Adamtsl2^{tm1c(KOMP)Wtsi}/Adamtsl2^{tm1c(KOMP)Wtsi}
Tg(Scx-GFP/cre)1Stzr/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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