Phenotypes Associated with This Genotype

Genotype
MGI:3776795

• Allelic Composition: Ptrh2^tm1.1Eruo/Ptrh2^tm1.1Eruo
• Genetic Background: C57BL/6-Ptrh2^tm1.1Eruo

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

skeleton

joint contracture ( J:241883 )

• mice show severe joint contractures by P7

mortality/aging

postnatal lethality, complete penetrance ( J:131853 , J:241883 )

• mice die between 8.5 and 12.5 days of age (J:131853)

• mice are visibly smaller several days after birth (J:131853)

homeostasis/metabolism

increased creatine kinase activity ( J:241883 )

growth/size/body

cachexia ( J:131853 )

• mice are visibly smaller several days after birth

• mice weight only 50-60% of controls just before death

cellular

decreased fibroblast apoptosis ( J:131853 )

• mouse embryonic fibroblasts (MEF) are resistant to apoptosis caused by detachment (anoikis) with 25-30% more viable cells present than wild-type MEFs after 24 hours of suspension culture

• MEFs are more sensitive than wild-type cells to treatment with apoptosis-inducing kinase inhibitor staurosporine

immune system

decreased neutrophil cell number ( J:131853 )

• mice have an 80% reduction of neutrophils in their blood

behavior/neurological

impaired righting response ( J:241883 )

• by P7, mice are unable to right themselves

ataxia ( J:131853 )

• ataxia due to muscle weakness occurs within two weeks of birth

hematopoietic system

decreased neutrophil cell number ( J:131853 )

• mice have an 80% reduction of neutrophils in their blood

muscle

abnormal sarcolemma morphology ( J:241883 )

• Evans blue dye uptake shows multiple damaged myofibers in the gastrocnemius muscle, indicating sarcolemmal defects

increased variability of skeletal muscle fiber size ( J:241883 )

centrally nucleated skeletal muscle fibers ( J:241883 )

• in triceps, tibialis anterior and gastrocnemius skeletal muscle

abnormal epaxial muscle morphology ( J:131853 )

• the diameter of the myofibers in the epaxial muscle are significantly smaller than in wild-type controls

skeletal muscle degeneration ( J:241883 )

• mice show multiple degenerating and regenerating muscle fibers at P7

skeletal muscle endomysial fibrosis ( J:241883 )

dystrophic muscle ( J:241883 )

• severe myopathic changes typical of muscular dystrophies are seen in skeletal muscle, including centrally nucleated fibers, elevated creatine kinase activity, increased fiber size variation and endomysial fibrosis

progressive muscle weakness ( J:131853 , J:241883 )

• mice become progressively weaker after birth until death between 8.5 and 12.5 days of age (J:131853)

• mice become progressively weaker within the first week of life and by P7, they are unable to right themselves, show severe joint contractures and can no longer walk (J:241883)

myopathy ( J:241883 )

• severe myopathic changes are seen in P7 skeletal muscle, including centrally nucleated fibers in triceps, tibialis anterior and gastrocnemius skeletal muscle, elevated creatine kinase activity, increased fiber size variation, and endomysial fibrosis

renal/urinary system

delayed kidney development ( J:131853 )

• the subcapsular glomeruli are smaller than in controls in one week old pups