Phenotypes associated with this allele

• Allele Symbol: Ptpre^tm1Ael
• Allele Name: targeted mutation 1, Ari Elson
• Allele ID: MGI:2385777
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptpre^tm1Ael/Ptpre^tm1Ael	involves: 129S6/SvEvTac * C57BL/6	MGI:3057005

Genotype
MGI:3057005

hm1

• Allelic Composition: Ptpre^tm1Ael/Ptpre^tm1Ael
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

limbs/digits/tail

long tibia ( J:90031 )

• slight increase in tibia length in 7 week old females

homeostasis/metabolism

decreased circulating type I collagen C-terminal telopeptide level ( J:90031 )

• reduced concentration of serum collagen telopeptide in 6 week old females

skeleton

abnormal osteoclast differentiation ( J:90031 )

• podosomes are disorganized and form large clusters in osteoclast-like cells from 7 week old females

abnormal osteoclast physiology ( J:90031 )

• reduced association of osteoclasts with bone in 7 week old females

• reduced concentration of serum collagen telopeptide in 6 week old females

• reduced bone resorption by osteoclast-like cells in culture

long tibia ( J:90031 )

• slight increase in tibia length in 7 week old females

increased trabecular bone volume ( J:90031 )

• increased trabecular bone volume in 7 week old females

• trabecular bone volume in 3 month old females does not differ from wildtype

increased bone trabecula number ( J:90031 )

• increased number of trabeculae in 7 week old females

nervous system

demyelination ( J:63866 )

• hypomyelination of sciatic nerve axons observed in 3-5 day old mice

• mylelination in adults is normal

abnormal channel response ( J:63866 )

• upregulation of delayed-rectifier, voltage-gated potassium channels in Schwann cells

• hyperphosphorylation of integral membrane Kv1.5 and Kv2.1 potassium channel alpha subunits

immune system

abnormal osteoclast differentiation ( J:90031 )

• podosomes are disorganized and form large clusters in osteoclast-like cells from 7 week old females

abnormal osteoclast physiology ( J:90031 )

• reduced association of osteoclasts with bone in 7 week old females

• reduced concentration of serum collagen telopeptide in 6 week old females

• reduced bone resorption by osteoclast-like cells in culture

hematopoietic system

abnormal osteoclast differentiation ( J:90031 )

• podosomes are disorganized and form large clusters in osteoclast-like cells from 7 week old females

abnormal osteoclast physiology ( J:90031 )

• reduced association of osteoclasts with bone in 7 week old females

• reduced concentration of serum collagen telopeptide in 6 week old females

• reduced bone resorption by osteoclast-like cells in culture

cellular

abnormal osteoclast differentiation ( J:90031 )

• podosomes are disorganized and form large clusters in osteoclast-like cells from 7 week old females