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Strain Name:

B6C3Fe a/a-Tcirg1oc/J

Stock Number:

000230

Availability:

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General Terms and Conditions

Genes & Alleles   Tcirg1;   Tcirg1oc;   a;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationN17F2

Appearance
black
Related Genotype: a/a Tcirg1oc/+ or a/a +/?

Strain 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.

Strain 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.

Related Disease (OMIM) Terms

Osteopetrosis, Autosomal Recessive 1; OPTB1
Mammalian Phenotype Terms 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 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
  • 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

Gene & Allele Details

Allele Symbol Tcirg1oc
Allele Name osteosclerotic
Common Name(s) Atp6i-; oc;
Strain of OriginC57BL/6J-Vps33abf
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

Control Information

  Allele   Control
 Tcirg1oc  Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   a allele
003879   B10;TFLe-a/a T tf/+ tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000001   B6.C3 A/a Mgrn1md/J
000785   B6;D2-a Es1e/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
002807   B6C3Fe a/a-Meox2fla/J
000224   B6C3Fe a/a-Scyl1mdf/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000231   B6C3Fe a/a-Csf1op/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000506   B6C3Fe a/a-Qkqk/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
001750   B6C3Fe a/a-XsJ/J
000624   B6C3Fe a/a-anx/J
003020   B6C3Fe a/a-dep/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001924   B6EiC3Sn a/A-Ts(1716)65Dn
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Sisi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000317   STOCK a/a Egfrwa2/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b sks/Tyrp1b +/J
000281   STOCK a/a ma ft/ma ft/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying   a     (102 strains)

Strains carrying other alleles of a
003301   (C57BL/6J x C3H-Eya1bor)F1/J
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Pldnpa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000552   B6-Aw-J-EdaTa-6J.Cg-Sxr
001730   B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J
000841   B6-Aw-J.CBy-EdaTa-By/J
001809   B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3Fe-Avy/J
000628   B6.CE-A Amy1b Amy2b/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
001572   B6.Cg-am-J/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000505   B6C3 Aw-J/A-Mutedmu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/J
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
001752   B6CBCa Aw-J/A-T(7;15)9H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/J
001203   C3FeB6F1/J A/Aw-J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
View Strains carrying other alleles of a     (67 strains)

Research Applications

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

References

Additional References

Price and Supply Information

Strain Name: B6C3Fe a/a-Tcirg1oc/J
Stock Number: 000230

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery of Strains Needing Progeny Testing.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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Control InformationView Control Information in Strain Details.

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The Jackson Laboratory's Genotype Promise

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.
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