Phenotypes associated with this allele

• Allele Symbol: Enpp1^tm1Gdg
• Allele Name: targeted mutation 1, J W Goding
• Allele ID: MGI:2385534
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Enpp1^tm1Gdg/Enpp1^tm1Gdg	involves: 129S1/Sv	MGI:4354512
hm2	Enpp1^tm1Gdg/Enpp1^tm1Gdg	involves: 129S1/Sv * C57BL/6	MGI:4354511

Genotype
MGI:4354512

hm1

• Allelic Composition: Enpp1^tm1Gdg/Enpp1^tm1Gdg
• Genetic Background: involves: 129S1/Sv

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

cellular

abnormal osteoblast physiology ( J:111462 )

• osteoblasts exhibit hypercalcification compared with wild-type cell

• however, hypercalcification in osteoblasts can be reversed by soluble Enpp1 and Spp1

skeleton

abnormal osteoblast physiology ( J:111462 )

• osteoblasts exhibit hypercalcification compared with wild-type cell

• however, hypercalcification in osteoblasts can be reversed by soluble Enpp1 and Spp1

calcified calcaneal tendon ( J:111462 )

• Achilles tendon calcification

calcified intervertebral disk ( J:111462 )

• ossific intervertebral fusion

abnormal trabecular bone morphology ( J:111462 )

• disorganized

fused joints ( J:111462 )

• peripheral joint ankylosis

increased bone ossification ( J:111462 )

• at 3 weeks, mice exhibit hyperostosis that leads to ossific intervertebral fusion, peripheral joint ankylosis, and Achilles tendon calcification unlike in wild-type mice

adipose tissue

abnormal adipose tissue morphology ( J:133011 )

• desamethasone, 3-iso-butyl-1-methylxanthine and insulin (DMI)-induced adipocyte maturation of mouse embryonic fibroblasts is more effective than in similarly treated wild-type cells

muscle

calcified calcaneal tendon ( J:111462 )

• Achilles tendon calcification

Genotype
MGI:4354511

hm2

• Allelic Composition: Enpp1^tm1Gdg/Enpp1^tm1Gdg
• Genetic Background: involves: 129S1/Sv * C57BL/6

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:78590 )

• at 4 weeks, mice appear restricted in their movement compared with wild-type mice

skeleton

abnormal cartilage development ( J:110028 )

• cultured plastic-adherent monocyte-depleted bone marrow cells exhibit increased chondrogenesis compared with similarly treated wild-type cells

fused joints ( J:78590 )

• after 4 weeks, mice exhibit signs of joint fusion

cardiovascular system

calcified aorta ( J:110028 )

• aortic media exhibit calcification and chondrogenic differentiation unlike wild-type aortas

abnormal vascular smooth muscle morphology ( J:110028 )

• vascular smooth muscle cells exhibit altered differentiation and exhibit calcification in culture unlike wild-type cells likely due to transdifferentiation

muscle

abnormal vascular smooth muscle morphology ( J:110028 )

• vascular smooth muscle cells exhibit altered differentiation and exhibit calcification in culture unlike wild-type cells likely due to transdifferentiation

integument

decreased skin turgor ( J:78590 )