Phenotypes associated with this allele

• Allele Symbol: Adamts17^tm1.2Taks
• Allele Name: targeted mutation 1.2, Taku Saito
• Allele ID: MGI:6466717
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adamts17^tm1.2Taks/Adamts17^tm1.2Taks	involves: C57BL * C57BL/6 * DBA	MGI:6466719

Genotype
MGI:6466719

hm1

• Allelic Composition: Adamts17^tm1.2Taks/Adamts17^tm1.2Taks
• Genetic Background: involves: C57BL * C57BL/6 * DBA

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:295274 )

• fewer than the expected number of mice are born

growth/size/body

decreased body size ( J:295274 )

• mice exhibit dwarfism after 1 week of age

decreased body weight ( J:295274 )

• mice exhibit decreased body weight after 1 week of age

skeleton

decreased cranium height ( J:295274 )

• longitudinal length of the skull is reduced 7-9% and 6-10% at 4 and 12 weeks of age, respectively

decreased length of long bones ( J:295274 )

• longitudinal lengths of the long bones are reduced 7-9% and 6-10% at 4 and 12 weeks of age, respectively

brachyphalangia ( J:295274 )

• proximal phalange length is reduced in the fore- and hindpaws

short humerus ( J:295274 )

• neonates show reduced humerus length

short tibia ( J:295274 )

• neonates show reduced tibia length

short metacarpal bones ( J:295274 )

• metacarpal length is reduced in the fore- and hindpaws

abnormal vertebrae morphology ( J:295274 )

• longitudinal length of vertebrae is reduced 7-9% and 6-10% at 4 and 12 weeks of age, respectively

abnormal skeleton development ( J:295274 )

• mice show postnatal impairment of skeletal growth

decreased width of hypertrophic chondrocyte zone ( J:295274 )

• length of the hypertrophic chondrocyte zone is reduced in tibias at P7

• however, chondrocyte proliferation and apoptosis are not different from wild-type mice at P7

delayed chondrocyte differentiation ( J:295274 )

• primary chondrocytes derived from embryos yield fewer mineralized nodules when cultured in maturation medium and terminal differentiation markers are decreased indicating delayed terminal differentiation of chondrocytes

• the inhibition of chondrocyte differentiation is prevented by treatment with rhBMP2

craniofacial

decreased cranium height ( J:295274 )

• longitudinal length of the skull is reduced 7-9% and 6-10% at 4 and 12 weeks of age, respectively

adipose tissue

decreased subcutaneous adipose tissue amount ( J:295274 )

• 8-month old mice show diminished epidermal fat in the skin

homeostasis/metabolism

increased collagen level ( J:295274 )

• increase in collagen deposition in the skin of 8-month old mice

integument

decreased subcutaneous adipose tissue amount ( J:295274 )

• 8-month old mice show diminished epidermal fat in the skin

thick skin ( J:295274 )

abnormal skin physiology ( J:295274 )

• decrease in skin elasticity in 8-month old mice

limbs/digits/tail

brachyphalangia ( J:295274 )

• proximal phalange length is reduced in the fore- and hindpaws

brachydactyly ( J:295274 )

• brachydactyly is seen in the fore- and hindlimbs of 8-month old mice

short humerus ( J:295274 )

• neonates show reduced humerus length

short tibia ( J:295274 )

• neonates show reduced tibia length

short metacarpal bones ( J:295274 )

• metacarpal length is reduced in the fore- and hindpaws

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:295274