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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tyrobptm1Lll
targeted mutation 1, Lewis L Lanier
MGI:2386277
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tyrobptm1Lll/Tyrobptm1Lll B6.129P2-Tyrobptm1Lll MGI:3843527
hm2
 		Tyrobptm1Lll/Tyrobptm1Lll involves: 129P2/OlaHsd MGI:4441171
hm3
 		Tyrobptm1Lll/Tyrobptm1Lll involves: 129P2/OlaHsd * C57BL/6 MGI:3818493
cx4
 		Hcsttm1.1Cln/Hcsttm1.1Cln
Tyrobptm1Lll/Tyrobptm1Lll 		B6.Cg-Hcsttm1.1Cln Tyrobptm1Lll MGI:3843528
cx5
 		Fcer1gtm1Rav/Fcer1gtm1Rav
Tyrobptm1Lll/Tyrobptm1Lll 		involves: 129P2/OlaHsd MGI:3840591
cx6
 		Fcer1gtm1Rav/Fcer1gtm1Rav
Tyrobptm1Lll/Tyrobptm1Lll 		involves: 129P2/OlaHsd * C57BL/6 MGI:3818498


Genotype
MGI:3843527
hm1
Allelic
Composition		 Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 B6.129P2-Tyrobptm1Lll
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal NK T cell physiology ( J:147867 )
• NK cells infected with mouse cytomegalovirus undergo less proliferation than in similarly treated wild-type cells
decreased interferon-gamma secretion ( J:147867 )
• antibody cross-linking of the Klra8 (Ly49H) receptor in cultured NK cells fails to induce IFNgamma secretion unlike in similarly treated wild-type cells

hematopoietic system
abnormal NK T cell physiology ( J:147867 )
• NK cells infected with mouse cytomegalovirus undergo less proliferation than in similarly treated wild-type cells




Genotype
MGI:4441171
hm2
Allelic
Composition		 Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased susceptibility to induced arthritis ( J:158811 )
• the incidence and severity of collagen antibody-induced arthritis are decreased compared to in similarly treated wild-type mice

skeleton
decreased susceptibility to induced arthritis ( J:158811 )
• the incidence and severity of collagen antibody-induced arthritis are decreased compared to in similarly treated wild-type mice




Genotype
MGI:3818493
hm3
Allelic
Composition		 Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:64763 )
N
• myeloid cell function in vitro is normal
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or coculture with wild-type osteoblasts can partially restore differentiation
decreased T cell proliferation ( J:64763 )
• in vitro, T cell proliferation response to immunization with MOG is 50% less than in similarly treated heterozygous cells used as a control
impaired natural killer cell mediated cytotoxicity ( J:64763 )
• NK cells exposed to Ly49D antibody exhibit decreased lytic activity towards FcR+ cells compared to similarly treated heterozygous cells used as a control
• NK cell lysis of CHO cells is impaired Ly49D receptor-dependent compared to for heterozygous cells used as a control
• however, lytic activity towards tumor cell lines YAC-1, IC-21, J774, RMA/S, AK7 and AK40 is normal
increased natural killer cell mediated cytotoxicity ( J:64763 )
• NK cells exhibit increased natural lytic activity towards FcR+ target cells compared to heterozygous cells used as a control
decreased interferon-gamma secretion ( J:64763 )
• in vitro, T cells stimulated with MOG do not produce IFN-gamma unlike heterozygous cells used as a control
decreased susceptibility to experimental autoimmune encephalomyelitis ( J:64763 )
• following treatment with MOG, Freund's adjuvant and pertussis toxin, 30% of mice are completely resistant to the development of experimental autoimmune encephalomyelitis and the remaining mice exhibit reduced disease severity compared to similarly treated heterozygotes used as a control
• mice immunized with MOG exhibit reduced accumulation of leukocytes, macrophages and activated microglial cells compared to in similarly treated heterozygotes used as a control
• Background Sensitivity: female mice are somewhat more susceptible to development of experimental autoimmune encephalomyelitis than male mice likely due to the genetic background

skeleton
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or coculture with wild-type osteoblasts can partially restore differentiation
decreased bone resorption ( J:89583 )
• osteoclast fail to resorb mineralized matrix in vivo unlike wild-type cells
• treatment of osteoclast precursors with large doses of macrophage colony stimulating factor does not rescue bone resoprtion
• however, coculture of osteoclast precursors with wild-type osteoblasts partially restores osteaoclasts bone resorption

hematopoietic system
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or coculture with wild-type osteoblasts can partially restore differentiation
decreased T cell proliferation ( J:64763 )
• in vitro, T cell proliferation response to immunization with MOG is 50% less than in similarly treated heterozygous cells used as a control
impaired natural killer cell mediated cytotoxicity ( J:64763 )
• NK cells exposed to Ly49D antibody exhibit decreased lytic activity towards FcR+ cells compared to similarly treated heterozygous cells used as a control
• NK cell lysis of CHO cells is impaired Ly49D receptor-dependent compared to for heterozygous cells used as a control
• however, lytic activity towards tumor cell lines YAC-1, IC-21, J774, RMA/S, AK7 and AK40 is normal
increased natural killer cell mediated cytotoxicity ( J:64763 )
• NK cells exhibit increased natural lytic activity towards FcR+ target cells compared to heterozygous cells used as a control

cellular
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or coculture with wild-type osteoblasts can partially restore differentiation
decreased T cell proliferation ( J:64763 )
• in vitro, T cell proliferation response to immunization with MOG is 50% less than in similarly treated heterozygous cells used as a control




Genotype
MGI:3843528
cx4
Allelic
Composition		 Hcsttm1.1Cln/Hcsttm1.1Cln
Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 B6.Cg-Hcsttm1.1Cln Tyrobptm1Lll
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hcsttm1.1Cln mutation (0 available); any Hcst mutation (9 available)
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal NK T cell physiology ( J:147867 )
• NK cells fail to kill m157-expressing target cells unlike wild-type cells
abnormal response to infection ( J:147867 )
• 4 days after infection with mouse cytomegalovirus, mice exhibit higher titers than in similarly treated Tyrobptm1Lll homozygotes

hematopoietic system
abnormal NK T cell physiology ( J:147867 )
• NK cells fail to kill m157-expressing target cells unlike wild-type cells




Genotype
MGI:3840591
cx5
Allelic
Composition		 Fcer1gtm1Rav/Fcer1gtm1Rav
Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fcer1gtm1Rav mutation (8 available); any Fcer1g mutation (28 available)
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal osteoclast physiology ( J:147155 )
• fewer tartrate-resistant acid phosphatase (TRAP)+ osteoclasts are observed compared to in wild-type mice

skeleton
abnormal osteoclast physiology ( J:147155 )
• fewer tartrate-resistant acid phosphatase (TRAP)+ osteoclasts are observed compared to in wild-type mice

hematopoietic system
abnormal osteoclast physiology ( J:147155 )
• fewer tartrate-resistant acid phosphatase (TRAP)+ osteoclasts are observed compared to in wild-type mice




Genotype
MGI:3818498
cx6
Allelic
Composition		 Fcer1gtm1Rav/Fcer1gtm1Rav
Tyrobptm1Lll/Tyrobptm1Lll
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fcer1gtm1Rav mutation (8 available); any Fcer1g mutation (28 available)
Tyrobptm1Lll mutation (1 available); any Tyrobp mutation (12 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
skeleton phenotype ( J:89583 )
N
• unlike Src or Tnfsf11 mutants, mice develop teeth
abnormal bone structure ( J:89583 )
• bones exhibit large areas of unresorbed bone with cartilaginous streaks unlike wild-type bone
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation
abnormal trabecular bone morphology ( J:89583 )
• mice exhibit an increased in trabecular number, trabecular thickness and decreased trabecular separation compared to wild-type mice
• trabecular structures are concave and solid with tube-like channels of arrow space unlike in wild trabeculae that are rod-like
osteopetrosis ( J:89583 )
• mice exhibit a severe increase in bone volume compared to in wild-type mice
decreased bone resorption ( J:89583 )
• osteoclast fail to resorb mineralized matrix in vivo unlike wild-type cells
• treatment of osteoclast precursors with large doses of macrophage colony stimulating factor does not rescue bone resoprtion
• however, transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs partially restores osteaoclasts bone resorption

growth/size/body
round face ( J:89583 )
• rounded face
decreased body size ( J:89583 )

craniofacial
round face ( J:89583 )
• rounded face

immune system
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation

hematopoietic system
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation

limbs/digits/tail

cellular
abnormal osteoclast differentiation ( J:89583 )
• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells
• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory