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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N17F2 Appearance
black
Related Genotype: a/a Tcirg1oc/+ or a/a +/?Description
Mice homozygous for the osteosclerotic spontaneous mutation (oc) can be recognized at about 10 days by failure of eruption of the incisors, clubbed feet, and circling behavior. Homozygous mutant mice may also have a kinked tail. They grow normally for about the first 10 days of life, then lose weight or at least fail to gain.Development
Tcirg1oc arose in a C57BL/6J stock in 1964. A Tcirg1oc/+ female was crossed to a gl/+ male. This is believed to have been an allele test with grey-lethal. The background of the gl/+ mouse is unknown, but it arrived at The Jackson Laboratory from George Jay in 1954 and may have been crossed to C3H once or twice. Then Tcirg1oc/+ sibling matings were continued until F10 at which time the inbreeding line was dying out. Subsequently, Tcirg1oc/+ or ovarian transplants were then used at each generation to breed to B6C3Fe-a/aF1 hybrids. In 1984 at N20 the stock was put into the Frozen Embryo Repository.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
Phenotype
Phenotype Information
Osteopetrosis, Autosomal Recessive 1; OPTB1 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Tcirg1oc/Tcirg1oc
B6C3Fe a/a-Tcirg1oc/J
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:7870)
- mice die by day 20 and lose weight several days before death
- skeleton phenotype
- abnormal long bone hypertrophic chondrocyte zone (MGI Ref ID J:7766)
- the columns of hypertrophic chondrocytes are distorted
- increased width of hypertrophic chondrocyte zone (MGI Ref ID J:7766)
- abnormal long bone metaphysis morphology (MGI Ref ID J:7870)
- unlike in wild-type mice, metaphyseal bones contain large, central vascular channels that abut epiphyseal cartilage
- unlike in wild-type mice, cytoplasmic vacuolizations are present next to the trabecular surfaces
- unlike in wild-type mice, the calcified cartilage cores of the metaphyseal trabeculae are outlines in darkly staining line and wide expanses of unmineralized bone matrix
- the junction between the growth plate and the metaphysis exhibits a paucity of capillary loops invading the lacunae in the hypertrophic zone
- the trabeculae is disorganized and thickened
- unmineralized or underminiralized areas are observed unlike in wild-type mice
- abnormal osteoclast morphology (MGI Ref ID J:7870)
- osteoclasts are smaller than in wild-type mice
- failure of secondary bone resorption (MGI Ref ID J:7766)
- increased bone density (MGI Ref ID J:61295)
- increased long bone epiphyseal plate size (MGI Ref ID J:7870)
- epiphyseal plates are wider and thicker than in wild-type mice
- thicker
- osteopetrosis (MGI Ref ID J:7870)
- mice exhibit typical features of osteopetrosis such as a dense, sclerotic skeleton, failure of development of marrow spaces and clubbing of the ends of the long bones
- mice exhibit expanded radiolucencies at the ends of the long bones
- hematopoietic system phenotype
- abnormal osteoclast morphology (MGI Ref ID J:7870)
- osteoclasts are smaller than in wild-type mice
- extramedullary hematopoiesis (MGI Ref ID J:7870)
- extramedullary hematopoiesis continues after birth in the spleen and liver unlike in wild-type mice
- increased megakaryocyte cell number (MGI Ref ID J:7870)
- prominent megakaryocytosis is present in the liver
- growth/size phenotype
- decreased body size (MGI Ref ID J:61295)
- decreased body weight (MGI Ref ID J:7870)
- mice exhibit decreased body weight compared to wild-type mice at day 15 to 20
- weight loss (MGI Ref ID J:7870)
- mice lose weight several days before death
- endocrine/exocrine gland phenotype
- abnormal thyroid gland morphology (MGI Ref ID J:7870)
- thyroid tissues are more prominent than in wild-type mice
- decreased insulin secretion (MGI Ref ID J:116082)
- behavior/neurological phenotype
- circling (MGI Ref ID J:61295)
- circling is observed two weeks after birth
- homeostasis/metabolism phenotype
- decreased circulating insulin level (MGI Ref ID J:116082)
- mice fail to exhibit an increase in insulin levels following administration of glucose
- digestive/alimentary phenotype
- decreased insulin secretion (MGI Ref ID J:116082)
- limbs/digits/tail phenotype
- abnormal long bone hypertrophic chondrocyte zone (MGI Ref ID J:7766)
- the columns of hypertrophic chondrocytes are distorted
- increased width of hypertrophic chondrocyte zone (MGI Ref ID J:7766)
- abnormal long bone metaphysis morphology (MGI Ref ID J:7870)
- unlike in wild-type mice, metaphyseal bones contain large, central vascular channels that abut epiphyseal cartilage
- unlike in wild-type mice, cytoplasmic vacuolizations are present next to the trabecular surfaces
- unlike in wild-type mice, the calcified cartilage cores of the metaphyseal trabeculae are outlines in darkly staining line and wide expanses of unmineralized bone matrix
- the junction between the growth plate and the metaphysis exhibits a paucity of capillary loops invading the lacunae in the hypertrophic zone
- the trabeculae is disorganized and thickened
- unmineralized or underminiralized areas are observed unlike in wild-type mice
- increased long bone epiphyseal plate size (MGI Ref ID J:7870)
- epiphyseal plates are wider and thicker than in wild-type mice
- thicker
- craniofacial phenotype
- abnormal dentin morphology (MGI Ref ID J:7870)
- the predentin layer in the molars and incisors are 2- to 3-fold thicker than in wild-type mice
- abnormal incisor morphology (MGI Ref ID J:7870)
- the base of the mandibular incisor extend posteriorly only to the first molar compared to in wild-type mice where it extends to the third molar
- root and crown surfaces of the incisors are irregular
- delayed tooth eruption (MGI Ref ID J:7870)
- tooth eruption is absent or delayed with only one of 23 mice exhibiting a partially erupted incisor at day 10 to 20 and no molars erupt in any of the mice compared to wild-type mice whose incisors erupt at day 10 and whose first molars erupt at day 16
- tooth eruption is absent or delayed
- immune system phenotype
- abnormal osteoclast morphology (MGI Ref ID J:7870)
- osteoclasts are smaller than in wild-type mice
- hearing/vestibular/ear phenotype
- circling (MGI Ref ID J:61295)
- circling is observed two weeks after birth
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Tcirg1oc/Tcirg1oc
C57BL/6J-Vps33abf
- life span-post-weaning/aging
- premature death (MGI Ref ID J:28464)
- mice die between 30 and 40 days of age although one mouse survived longer
- skeleton phenotype
- abnormal bone ossification (MGI Ref ID J:28464)
- extra bone deposits are present on the chondrocostal junction and in the hindlimb
- failure of secondary bone resorption (MGI Ref ID J:28464)
- behavior/neurological phenotype
- circling (MGI Ref ID J:28464)
- circling behavior is apparent at day 10 to 12 and worsens with age
- limbs/digits/tail phenotype
- clubfoot (MGI Ref ID J:28464)
- craniofacial phenotype
- absent teeth (MGI Ref ID J:28464)
- hearing/vestibular/ear phenotype
- circling (MGI Ref ID J:28464)
- circling behavior is apparent at day 10 to 12 and worsens with age
This mouse can be used to support research in many areas including:Tcirg1oc related
Developmental Biology Research
Skeletal Defects
Endocrine Deficiency Research
Bone/Bone Marrow Defects
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Tcirg1oc | ||
|---|---|---|---|
| Allele Name | osteosclerotic | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Atp6i-; oc; | ||
| Strain of Origin | C57BL/6J-Vps33a | ||
| Gene Symbol and Name | Tcirg1, T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | ATP6N1C; ATP6V0A3; ATP6a3; ATPase, H+ transporting, lysosomal I; Atp6i; MGC72583; OC-116; OC-116kDa; OC116; OPTB1; Stv1; TIRC7; V-ATPase a3; Vph1; a3; oc; osteosclerotic; | ||
| Molecular Note | This mutation was defined as a 1579 bp deletion starting in the middle of intron 1 and extending 62 bp into exon 3. [MGI Ref ID J:61295] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
Genotyping Protocols
Tcirg1oc, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Marks SC Jr; Seifert MF; Lane PW. 1985. Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. J Hered 76(3):171-6. [PubMed: 3998439] [MGI Ref ID J:7870]
Scimeca JC; Franchi A; Trojani C; Parrinello H; Grosgeorge J; Robert C; Jaillon O; Poirier C; Gaudray P; Carle GF. 2000. The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. Bone 26(3):207-13. [PubMed: 10709991] [MGI Ref ID J:61295]
Udagawa N; Sasaki T; Akatsu T; Takahashi N; Tanaka S; Tamura T; Tanaka H; Suda T. 1992. Lack of bone resorption in osteosclerotic (oc/oc) mice is due to a defect in osteoclast progenitors rather than the local microenvironment provided by osteoblastic cells. Biochem Biophys Res Commun 184(1):67-72. [PubMed: 1567458] [MGI Ref ID J:525]
Tcirg1oc relatedAskmyr M; Holmberg J; Flores C; Ehinger M; Hjalt T; Richter J. 2009. Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. Exp Hematol 37(2):302-8. [PubMed: 19100677] [MGI Ref ID J:146562]
Blin-Wakkach C; Breuil V; Quincey D; Bagnis C; Carle GF. 2006. Establishment and characterization of new osteoclast progenitor cell lines derived from osteopetrotic and wild type mice. Bone 39(1):53-60. [PubMed: 16503212] [MGI Ref ID J:111156]
Blin-Wakkach C; Wakkach A; Quincey D; Carle GF. 2006. Interleukin-7 partially rescues B-lymphopoiesis in osteopetrotic oc/oc mice through the engagement of B220+ CD11b+ progenitors. Exp Hematol 34(7):851-9. [PubMed: 16797412] [MGI Ref ID J:111910]
Blin-Wakkach C; Wakkach A; Sexton PM; Rochet N; Carle GF. 2004. Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. Leukemia 18(9):1505-11. [PubMed: 15284856] [MGI Ref ID J:93047]
Brady KP; Dushkin H; Fornzler D; Koike T; Magner F; Her H; Gullans S ; Segre GV ; Green RM ; Beier DR. 1999. A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse. Genomics 56(3):254-61. [PubMed: 10087192] [MGI Ref ID J:54028]
Dickie MM. 1967. Osteosclerotic (oc) Mouse News Lett 36:39. [MGI Ref ID J:28464]
Johansson M; Jansson L; Ehinger M; Fasth A; Karlsson S; Richter J. 2006. Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis. Exp Hematol 34(2):242-9. [PubMed: 16459192] [MGI Ref ID J:106436]
Kasper D; Planells-Cases R; Fuhrmann JC; Scheel O; Zeitz O; Ruether K; Schmitt A; Poet M; Steinfeld R; Schweizer M; Kornak U; Jentsch TJ. 2005. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J 24(5):1079-91. [PubMed: 15706348] [MGI Ref ID J:96791]
Marks SC Jr; Seifert MF; Lane PW. 1985. Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. J Hered 76(3):171-6. [PubMed: 3998439] [MGI Ref ID J:7870]
Schinke T; Schilling AF; Baranowsky A; Seitz S; Marshall RP; Linn T; Blaeker M; Huebner AK; Schulz A; Simon R; Gebauer M; Priemel M; Kornak U; Perkovic S; Barvencik F; Beil FT; Del Fattore A; Frattini A; Streichert T; Pueschel K; Villa A; Debatin KM; Rueger JM; Teti A; Zustin J; Sauter G; Amling M. 2009. Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nat Med 15(6):674-81. [PubMed: 19448635] [MGI Ref ID J:151255]
Scimeca JC; Franchi A; Trojani C; Parrinello H; Grosgeorge J; Robert C; Jaillon O; Poirier C; Gaudray P; Carle GF. 2000. The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants. Bone 26(3):207-13. [PubMed: 10709991] [MGI Ref ID J:61295]
Seifert MF; Marks SC Jr. 1985. Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse. Am J Anat 172(2):141-53. [PubMed: 3976544] [MGI Ref ID J:7766]
Sun-Wada GH; Toyomura T; Murata Y; Yamamoto A; Futai M; Wada Y. 2006. The a3 isoform of V-ATPase regulates insulin secretion from pancreatic beta-cells. J Cell Sci 119(Pt 21):4531-40. [PubMed: 17046993] [MGI Ref ID J:116082]
Udagawa N; Sasaki T; Akatsu T; Takahashi N; Tanaka S; Tamura T; Tanaka H; Suda T. 1992. Lack of bone resorption in osteosclerotic (oc/oc) mice is due to a defect in osteoclast progenitors rather than the local microenvironment provided by osteoblastic cells. Biochem Biophys Res Commun 184(1):67-72. [PubMed: 1567458] [MGI Ref ID J:525]
Wakkach A; Mansour A; Dacquin R; Coste E; Jurdic P; Carle GF; Blin-Wakkach C. 2008. Bone marrow microenvironment controls the in vivo differentiation of murine dendritic cells into osteoclasts. Blood 112(13):5074-83. [PubMed: 18768394] [MGI Ref ID J:143799]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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See Terms of Use tab for General Terms and Conditions
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering and Purchasing Information
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