Strain Name:

129S6.CB(B6)-Del(1)1Brk Gpi1b/Gpi1c/BrkMdfJ

Stock Number:

005730

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Availability:

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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

Former Names 129S6.CBA(B6)-Del(1)1Brk Gpi1b/Gpi1c/BrkMdfJ    (Changed: 05-OCT-05 )
Type Chromosome Aberration; Deletion;
Additional information on Mice with Chromosomal Aberrations.
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain 129S6/SvEvTac
Donor Strain CBA/J via C57BL/6J
H2 Haplotypeb
GenerationN11F3p
Generation Definitions

Appearance
white-bellied agouti
Related Genotype: Aw/Aw

Important Note
This strain is segregating Gpi1b from C57BL/6.

Description
Homozygous mice develop microcytic anemia, sparse hair, enlarged spleens and a slight cardiomegaly. Males are infertile. Homozygous mice on the C57BL/6J background develop hydrocephalus and less than 5% survive beyond 6 days. On the 129 background, 95% of mice survive to adulthood.

Development
This spontaneous mutation arose on a CBA/J mouse from the The Jackson Laboratory in 1982 and was designated nm1054. nm1054 was transferred to the laboratory of Dr. Jane Barker (Jackson) and backcrossed to C57BL/6J for 15 generations. Dr. Mark Fleming (Children's Hospital, Boston) received the colony in 2001 and backcrossed it to 129S6/SvEvTac for 11 generations. The Jackson Laboratory imported this strain in 2006.

Related Strains

View Strains carrying   Gpi1b     (3 strains)

Strains carrying   Gpi1c allele
002027   129S8/SvEv-Gpi1c Hprtb-m2/J
View Strains carrying   Gpi1c     (1 strain)

View Strains carrying other alleles of Gpi1     (14 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency   (GPI)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Del(1)1Brk/Del(1)1Brk

        CBA/J-nm1054
  • growth/size phenotype
  • decreased birth body size
    • runted at birth   (MGI Ref ID J:100202)
  • hematopoietic system phenotype
  • anemia   (MGI Ref ID J:100202)
  • reproductive system phenotype
  • male infertility   (MGI Ref ID J:100202)
  • integument phenotype
  • pallor   (MGI Ref ID J:100202)

Del(1)1Brk/Del(1)1Brk

        129S6.CB(B6)-Del(1)1Brk Gpi1b/Gpi1c/BrkMdfJ
  • mortality/aging
  • partial postnatal lethality
    • of the mutants that are born, most die prior to P7, with a few surviving past weaning, on the C57BL/6J background   (MGI Ref ID J:100202)
  • partial prenatal lethality
    • significant prenatal lethality on the C57BL/6J background, as only observe 7.3% of homozygotes at birth instead of the expected 25%   (MGI Ref ID J:100202)
  • growth/size phenotype
  • decreased birth body size
    • runted at birth   (MGI Ref ID J:100202)
  • hematopoietic system phenotype
  • anemia   (MGI Ref ID J:100202)
  • nervous system phenotype
  • hydroencephaly
    • evident on the C57BL/6J background but not on a mixed 129S6/SvEvTac background   (MGI Ref ID J:100202)
  • reproductive system phenotype
  • male infertility   (MGI Ref ID J:100202)
  • integument phenotype
  • pallor   (MGI Ref ID J:100202)
  • sparse hair
    • particularly on dorsal surfaces   (MGI Ref ID J:100202)

Del(1)1Brk/Del(1)1Brk

        involves: 129S6/SvEvTac * C57BL/6J * CBA/J
  • mortality/aging
  • *normal* mortality/aging
    • most survive to adulthood on a mixed 129S6/SvEvTac unlike on the C57BL/6J background   (MGI Ref ID J:100202)
  • nervous system phenotype
  • *normal* nervous system phenotype
    • only rarely observe hydroencephaly on the mixed 129S6/SvEvTac background   (MGI Ref ID J:100202)
  • hematopoietic system phenotype
  • abnormal erythrocyte morphology   (MGI Ref ID J:100202)
    • anisocytosis   (MGI Ref ID J:100202)
    • anisopoikilocytosis   (MGI Ref ID J:100202)
    • decreased hematocrit   (MGI Ref ID J:100202)
    • decreased hemoglobin content
      • hemoglobin is reduced by at least one third in all ages examined (4, 8, 12, and 24 weeks of age)   (MGI Ref ID J:100202)
      • erythrocytes are hypochromic   (MGI Ref ID J:100202)
    • decreased mean corpuscular hemoglobin concentration   (MGI Ref ID J:100202)
    • decreased mean corpuscular hemoglobin   (MGI Ref ID J:100202)
    • decreased mean corpuscular volume   (MGI Ref ID J:100202)
    • microcytic anemia
      • anemia tends to improve after 4 weeks of age   (MGI Ref ID J:100202)
    • microcytosis
      • erythrocytes are microcytic   (MGI Ref ID J:100202)
    • polychromatophilia   (MGI Ref ID J:100202)
  • abnormal spleen morphology   (MGI Ref ID J:100202)
    • abnormal spleen white pulp morphology
      • expanded red pulp effaces the normal white pulp architecture   (MGI Ref ID J:100202)
    • enlarged spleen
      • splenomegaly tends to improve with age   (MGI Ref ID J:100202)
    • increased spleen red pulp amount
      • red pulp is expanded and occupied by sheets of erythroid precursors   (MGI Ref ID J:100202)
  • increased bone marrow cell number
    • erythroid hyperplasia in the marrow   (MGI Ref ID J:100202)
  • increased leukocyte cell number
  • increased platelet cell number   (MGI Ref ID J:100202)
  • reticulocytosis
    • reticulocyte count is increased to variable degrees at all ages, indicating a proliferative anemia   (MGI Ref ID J:100202)
  • homeostasis/metabolism phenotype
  • abnormal iron homeostasis
    • the erythrocyte zinc protoporphyrin IX to heme (Znpp/H) ratio is increased nearly 4-fold at 4 weeks of age, suggesting an iron metabolism defect   (MGI Ref ID J:100202)
    • total iron uptake in reticulocytes is decreased about 4-fold and reticulocytes incorporate much less iron into heme   (MGI Ref ID J:100202)
    • an average of 31% of iron is released from cells compared to an average of 3% in controls, indicating an endosomal iron processing defect in which there is inefficient transfer of endosomal iron to the cell   (MGI Ref ID J:100202)
    • abnormal iron level
      • bone marrow reticuloendothelial iron is present   (MGI Ref ID J:100202)
      • abnormal circulating iron level
        • at 4 weeks of age serum iron, total iron binding concentration, and transferrin saturations are elevated, however these levels normalize over time   (MGI Ref ID J:100202)
      • abnormal liver iron level
        • elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system   (MGI Ref ID J:100202)
  • immune system phenotype
  • abnormal spleen morphology   (MGI Ref ID J:100202)
    • abnormal spleen white pulp morphology
      • expanded red pulp effaces the normal white pulp architecture   (MGI Ref ID J:100202)
    • enlarged spleen
      • splenomegaly tends to improve with age   (MGI Ref ID J:100202)
    • increased spleen red pulp amount
      • red pulp is expanded and occupied by sheets of erythroid precursors   (MGI Ref ID J:100202)
  • increased leukocyte cell number
  • reproductive system phenotype
  • male infertility   (MGI Ref ID J:100202)
  • testis hypoplasia   (MGI Ref ID J:100202)
  • endocrine/exocrine gland phenotype
  • testis hypoplasia   (MGI Ref ID J:100202)
  • liver/biliary system phenotype
  • abnormal liver iron level
    • elevated liver iron that becomes normalized over time, with iron predominately in hepatocytes rather than in Kupffer cells of the reticuloendothelial system   (MGI Ref ID J:100202)
  • enlarged liver
    • slight hepatomegaly, not due to extramedullary hematopoiesis   (MGI Ref ID J:100202)
  • cardiovascular system phenotype
  • enlarged heart
    • slight cardiomegaly, particularly at earlier ages, which tends to improve with age   (MGI Ref ID J:100202)

Del(1)1Brk/Del(1)1Brk

        involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J
  • hematopoietic system phenotype
  • abnormal erythrocyte morphology   (MGI Ref ID J:103440)
    • abnormal hemoglobin   (MGI Ref ID J:103440)
      • decreased hemoglobin content
        • blood of 8 week old mice homozygous for the deletion has a hemoglobin (g/dl) content about 65% that of blood from wild-type mice   (MGI Ref ID J:103440)
      • decreased mean corpuscular hemoglobin concentration
        • the hemoglobin concentration in red blood cells from 8 week old homozygous deletant mice is about 82% that of wild-type mice   (MGI Ref ID J:103440)
      • decreased mean corpuscular hemoglobin
        • red blood cells of 8 week old homozygous deletant mice contain only about 41% as much hemoglobin (pg) as RBCs of wild-type mice   (MGI Ref ID J:103440)
    • anisopoikilocytosis
      • red blood cells of homozygous deletants vary in shape and size   (MGI Ref ID J:103440)
    • decreased hematocrit
      • the hematocrit of 8 week old mice homozygous for the deletion is about 75% that of wild-type mice   (MGI Ref ID J:103440)
    • decreased mean corpuscular volume
      • 8 week old homozygous deletant mice have a mean RBC volume approximately half that of wild-type mice   (MGI Ref ID J:103440)
    • increased erythrocyte cell number   (MGI Ref ID J:103440)
  • abnormal reticulocyte morphology
    • reticulocytes of 8 week old homozygous deletant mice contain less than half the cellular hemoglobin of those from wild-type mice   (MGI Ref ID J:103440)
    • reticulocytosis
      • in blood of 8 week old homozygous deletant mice, both the absolute number and the proportion of reticulocytes are significantly elevated over those in blood of mice with at least one wild-type allele   (MGI Ref ID J:103440)
  • increased platelet cell number
    • the platelet count of 8 week old homozygous mutant mice is about 3.75 times that of wild-type mice   (MGI Ref ID J:103440)
  • homeostasis/metabolism phenotype
  • abnormal iron homeostasis
    • the erythrocyte zinc-to-iron protoporphyrin IX ratio of 8 week old homozygous deletant mice is approximately 2.7-fold that of wild-type mice   (MGI Ref ID J:103440)
    • increased liver iron level
      • the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice   (MGI Ref ID J:103440)
  • liver/biliary system phenotype
  • increased liver iron level
    • the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild-type mice   (MGI Ref ID J:103440)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Del(1)1Brk related

Dermatology Research
Skin and Hair Texture Defects

Hematological Research
Anemia, Iron Deficiency and Transport Defects
      microcytic

Internal/Organ Research
Spleen Defects

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Del(1)1Brk
Allele Name deletion, Chr 1, Jane Barker 1
Allele Type Spontaneous
Common Name(s) Del1Brk; Steap3nm1054; nm1054;
Strain of OriginCBA/J
Gene Symbol and Name Del(1)1Brk, deletion, Chr 1, Jane Barker 1
Chromosome 1
Gene Common Name(s) nm1054;
General Note A transgene comprising the bacterial artificial chromosome (BAC) RPCI-22 11D19, containing Steap3 and C1ql2, restored normal hemoglobin levels in mice homozygous for the deletion. Three overlapping BAC transgenes encompassing the rest of the deletion region failed to affect the phenotype, as did a truncated transgene derived from RPCI-22 11D19 that contained only C2ql2. J:103440

The anemia phenotype of the homozygous mice is recapitulated by a targeted mutation of Steap3, which also fails to complement the deletion in trans. The phenotype of the complex heterozygote is described above. J:103440

Molecular Note This spontaneous deletion comprises approximately 400 kb and removes all or part of six genes at about 63.1-64.1 cM on Chr 1. [MGI Ref ID J:103440]
 
Allele Symbol Gpi1b
Allele Name b variant
Allele Type Not Applicable
Gene Symbol and Name Gpi1, glucose phosphate isomerase 1
Chromosome 7
Gene Common Name(s) AMF; GNPI; Gpi-1; Gpi-1r; Gpi-1s; Gpi-1t; Gpi1-r; Gpi1-s; Gpi1-t; MF; NK; NK/GPI; NLK; Org; PGI; PHI; SA-36; SA36; autocrine motility factor; glucose phosphate isomerase 1, regulatory; glucose phosphate isomerase 1, structural; glucose phosphate isomerase 1, temporal; maturation factor; neuroleukin;
Molecular Note This allele determines a faster migrating variant of the encoded enzyme and occurs in the wild and in strains BUB/Bn, CBA/J, CBA/CaJ, C3H/HeH, C3Heb/FeJ, C57BL/6J, C57BL/6J-ob, SEA/GJ and SWR/J. Sequencing analysis identified four nucleotide differencesbetween this allele and Gpi1a. Two differences were silent, while a third difference at nucleotide position 282 predicts an aspartate for the a allele and an asparagine for the b allele at amino acid position 94. A fourth difference in the 3' untranslated region was also noted. [MGI Ref ID J:28033]
 
Allele Symbol Gpi1c
Allele Name c variant
Allele Type Not Applicable
Strain of Originwild
Gene Symbol and Name Gpi1, glucose phosphate isomerase 1
Chromosome 7
Gene Common Name(s) AMF; GNPI; Gpi-1; Gpi-1r; Gpi-1s; Gpi-1t; Gpi1-r; Gpi1-s; Gpi1-t; MF; NK; NK/GPI; NLK; Org; PGI; PHI; SA-36; SA36; autocrine motility factor; glucose phosphate isomerase 1, regulatory; glucose phosphate isomerase 1, structural; glucose phosphate isomerase 1, temporal; maturation factor; neuroleukin;
Molecular Note This allele determines a fast migrating variant of the encoded enzyme and occurs in the wild.

Genotyping

Genotyping Information

Genotyping Protocols

Del(1)1Brk, QPCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Ohgami RS; Campagna DR; Antiochos B; Wood EB; Sharp JJ; Barker JE; Fleming MD. 2005. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood 106(10):3625-31. [PubMed: 15994289]  [MGI Ref ID J:100202]

Additional References

Gpi1b related

Benveniste P; Frelin C; Janmohamed S; Barbara M; Herrington R; Hyam D; Iscove NN. 2010. Intermediate-term hematopoietic stem cells with extended but time-limited reconstitution potential. Cell Stem Cell 6(1):48-58. [PubMed: 20074534]  [MGI Ref ID J:157080]

Charles DJ; Lee CY. 1980. Biochemical and immunological characterization of genetic variants of phosphoglucose isomerase from mouse. Biochem Genet 18(1-2):153-69. [PubMed: 6155905]  [MGI Ref ID J:6330]

Chen J; Reifsnyder PC; Scheuplein F; Schott WH; Mileikovsky M; Soodeen-Karamath S; Nagy A; Dosch MH; Ellis J; Koch-Nolte F; Leiter EH. 2005. 'Agouti NOD': identification of a CBA-derived Idd locus on Chromosome 7 and its use for chimera production with NOD embryonic stem cells. Mamm Genome 16(10):775-83. [PubMed: 16261419]  [MGI Ref ID J:102639]

Collinson JM; Quinn JC; Hill RE; West JD. 2003. The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo. Dev Biol 255(2):303-12. [PubMed: 12648492]  [MGI Ref ID J:82632]

DeLorenzo RJ; Ruddle FH. 1969. Genetic control of two electrophoretic variants of glucosephosphate isomerase in the mouse (Mus musculus). Biochem Genet 3(2):151-62. [PubMed: 5364923]  [MGI Ref ID J:5141]

Felfly H; Trudel M. 2010. Successful correction of murine sickle cell disease with reduced stem cell requirements reinforced by fractionated marrow infusions. Br J Haematol 148(4):646-58. [PubMed: 19930185]  [MGI Ref ID J:182120]

Jay PY; Bielinska M; Erlich JM; Mannisto S; Pu WT; Heikinheimo M; Wilson DB. 2007. Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 301(2):602-614. [PubMed: 17069789]  [MGI Ref ID J:117367]

Pearce SR; Morgan MJ; Ball S; Peters J; Faik P. 1995. Sequence characterization of alleles Gpi1-Sa and Gpi1-Sb at the glucose phosphate isomerase structural locus. Mamm Genome 6(8):537-9. [PubMed: 8589524]  [MGI Ref ID J:28033]

Szuber N; Buss JL; Soe-Lin S; Felfly H; Trudel M; Ponka P. 2008. Alternative treatment paradigm for thalassemia using iron chelators. Exp Hematol 36(7):773-85. [PubMed: 18456387]  [MGI Ref ID J:136991]

Gpi1c related

Padua RA; Bulfield G; Peters J. 1978. Biochemical genetics of a new glucosephosphate isomerase allele (Gpi-1c) from wild mice. Biochem Genet 16(1-2):127-43. [PubMed: 25645]  [MGI Ref ID J:5973]

Del(1)1Brk related

Lee L; Campagna DR; Pinkus JL; Mulhern H; Wyatt TA; Sisson JH; Pavlik JA; Pinkus GS; Fleming MD. 2008. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol Cell Biol 28(3):949-57. [PubMed: 18039845]  [MGI Ref ID J:130396]

Lee L; DeBono CA; Campagna DR; Young DC; Moody DB; Fleming MD. 2007. Loss of the acyl-CoA binding protein (Acbp) results in fatty acid metabolism abnormalities in mouse hair and skin. J Invest Dermatol 127(1):16-23. [PubMed: 16902415]  [MGI Ref ID J:116635]

Ohgami RS; Campagna DR; Greer EL; Antiochos B; McDonald A; Chen J; Sharp JJ; Fujiwara Y; Barker JE; Fleming MD. 2005. Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Nat Genet 37(11):1264-9. [PubMed: 16227996]  [MGI Ref ID J:103440]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryHomozygous females are poor breeders and homozygous males are infertile.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3000.00
Animals Provided

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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3900.00
Animals Provided

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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Important Note

This strain is segregating Gpi1b from C57BL/6.

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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.
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(6.2)