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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Itln1em1Cya
endonuclease-mediated mutation 1, Cyagen Biosciences
MGI:6467471
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Itln1em1Cya/Itln1em1Cya involves: C57BL/6 MGI:6473854


Genotype
MGI:6473854
hm1
Allelic
Composition
Itln1em1Cya/Itln1em1Cya
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itln1em1Cya mutation (0 available); any Itln1 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• tartrate-resistant acid phosphatase (TRAP) staining of femora revealed a significant increase in the number of TRAP+ cells (number of osteoclasts per bone surface)
• in vitro, bone marrow cells form significantly higher numbers of colony-forming unit-granulocyte/macrophage colonies (CFU-GMs) indicating enhanced proliferation of osteoclast progenitors
• immunostaining revealed a drastic increase in areas positively stained for pro-inflammatory mediators, including IL-1beta, IL-6, and TNF-alpha in femoral tissue
• marked increase in serum concentrations of IL-1 alpha as determined by ELISA
• unexpectedly, marked increase in serum concentrations of IL-10 (an anti-inflammatory cytokine that can suppress osteoclastogenesis and bone resorption) as determined by ELISA
• marked increase in serum concentrations of IL-6 as determined by ELISA
• marked increase in serum concentrations of TNF-alpha as determined by ELISA

skeleton
• in vitro, bone marrow cells form significantly lower numbers of colony-forming unit-fibroblast colonies (CFU-Fs) indicating impaired proliferation of osteoblast precursors
• tartrate-resistant acid phosphatase (TRAP) staining of femora revealed a significant increase in the number of TRAP+ cells (number of osteoclasts per bone surface)
• in vitro, bone marrow cells form significantly higher numbers of colony-forming unit-granulocyte/macrophage colonies (CFU-GMs) indicating enhanced proliferation of osteoclast progenitors
• femora show a significantly reduced periosteal perimeter of femoral diaphysis
• femora show a significantly reduced periosteal perimeter of femoral diaphysis
• microcomputed tomography images of femora revealed a significantly reduced trabecular bone volume fraction (trabecular bone volume per tissue volume)
• femora show a significantly reduced trabecular number
• femora show a significantly increased trabecular separation
• femora show a significantly reduced trabecular bone thickness
• however, cortical bone thickness of femora is NOT significantly reduced
• mice show inflammatory bone loss-like phenotypes including elevated pro-inflammatory cytokines, increased osteoclast formation and trabecular bone tissue destruction, and impaired osteogenic activities

homeostasis/metabolism
• marked reduction in serum osteocalcin concentration as determined by ELISA
• marked increase in serum C-terminal telopeptides of type I collagen (CTX-I) concentration as determined by ELISA
• immunostaining revealed a drastic increase in areas positively stained for pro-inflammatory mediators, including IL-1beta, IL-6, and TNF-alpha in femoral tissue
• marked increase in serum concentrations of IL-1 alpha as determined by ELISA
• unexpectedly, marked increase in serum concentrations of IL-10 (an anti-inflammatory cytokine that can suppress osteoclastogenesis and bone resorption) as determined by ELISA
• marked increase in serum concentrations of IL-6 as determined by ELISA
• marked increase in serum concentrations of TNF-alpha as determined by ELISA

hematopoietic system
• tartrate-resistant acid phosphatase (TRAP) staining of femora revealed a significant increase in the number of TRAP+ cells (number of osteoclasts per bone surface)
• in vitro, bone marrow cells form significantly higher numbers of colony-forming unit-granulocyte/macrophage colonies (CFU-GMs) indicating enhanced proliferation of osteoclast progenitors

cellular
• in vitro, bone marrow cells form significantly lower numbers of colony-forming unit-fibroblast colonies (CFU-Fs) indicating impaired proliferation of osteoblast precursors

limbs/digits/tail
• femora show a significantly reduced periosteal perimeter of femoral diaphysis





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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory