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Strain Name:

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

Stock Number:

005730

Availability:

Under Development for Cryopreservation Repository

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General Terms and Conditions

Former Name      129S6.CBA(B6)-Del(1)1Brk Gpi1b/Gpi1c/BrkMdfJ    (Changed: 05-OCT-05 )
Genes & Alleles   Gpi1;   Gpi1b;   Del(1)1Brk;

Product Information

Strain Details

Type Chromosome Aberration
Additional information on Mice with Chromosomal Aberrations.
Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type Deletion
Additional information on Mice with Chromosomal Aberrations.
Type JAX® GEMM® Strain - Mutant Strain
Specieslaboratory mouse
Background Strain 129S6/SvEvTac
Donor Strain CBA/JEi via C57BL/6J
H2 Haplotypeb

Appearance
white-bellied agouti
Related Genotype: Aw/Aw

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

Strain 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.

Strain Development
This spontaneous mutation arose on the CBA/JEi strain at The Jackson Laboratory in 1983 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.

Mammalian Phenotype Terms 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 body size (MGI Ref ID J:100202)
    • runted at birth
  • hematopoietic system phenotype
  • anemia (MGI Ref ID J:100202)
  • reproductive system phenotype
  • male infertility (MGI Ref ID J:100202)
  • skin/coat/nails phenotype
  • pallor (MGI Ref ID J:100202)

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

        B6J.CB-nm1054
  • lethality-prenatal/perinatal
  • prenatal lethality (MGI Ref ID J:100202)
    • significant prenatal lethality on the C57BL/6J background, as only observe 7.3% of homozygotes at birth instead of the expected 25%
  • lethality-postnatal
  • postnatal lethality (MGI Ref ID J:100202)
    • of the mutants that are born, most die prior to P7, with a few surviving past weaning, on the C57BL/6J background
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:100202)
    • runted at birth
  • hematopoietic system phenotype
  • anemia (MGI Ref ID J:100202)
  • nervous system phenotype
  • hydroencephaly (MGI Ref ID J:100202)
    • evident on the C57BL/6J background but not on a mixed 129S6/SvEvTac background
  • reproductive system phenotype
  • male infertility (MGI Ref ID J:100202)
  • skin/coat/nails phenotype
  • pallor (MGI Ref ID J:100202)
  • sparse hair (MGI Ref ID J:100202)
    • particularly on dorsal surfaces

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

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

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

        involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J * CBA/J
  • hematopoietic system phenotype
  • abnormal red blood cell (MGI Ref ID J:103440)
    • abnormal erythrocyte morphology (MGI Ref ID J:103440)
      • anisopoikilocytosis (MGI Ref ID J:103440)
        • red blood cells of homozygous deletants vary in shape and size
      • decreased mean corpuscular volume (MGI Ref ID J:103440)
        • 8 week old homozygous deletant mice have a mean RBC volume approximately half that of wild type mice
      • increased erythrocyte cell number (MGI Ref ID J:103440)
    • decreased hematocrit (MGI Ref ID J:103440)
      • the hematocrit of 8 week old mice homozygous for the deletion is about 75% that of wild type mice
    • hemoglobin abnormalities (MGI Ref ID J:103440)
      • decreased hemoglobin content (MGI Ref ID J:103440)
        • 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
      • decreased mean corpuscular hemoglobin concentration (MGI Ref ID J:103440)
        • the hemoglobin concentration in red blood cells from 8 week old homozygous deletant mice is about 82% that of wild type mice
      • decreased mean corpuscular hemoglobin (MGI Ref ID J:103440)
        • red blood cells of 8 week old homozygous deletant mice contain only about 41% as much hemoglobin (pg) as RBCs of wild type mice
  • abnormal reticulocyte morphology (MGI Ref ID J:103440)
    • reticulocytes of 8 week old homozygous deletant mice contain less than half the cellular hemoglobin of those from wild type mice
    • reticulocytosis (MGI Ref ID J:103440)
      • 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
  • increased platelet cell number (MGI Ref ID J:103440)
    • the platelet count of 8 week old homozygous mutant mice is about 3.75 times that of wild type mice
  • homeostasis/metabolism phenotype
  • abnormal iron homeostasis (MGI Ref ID J:103440)
    • 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
    • increased liver iron level (MGI Ref ID J:103440)
      • the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild type mice
  • liver/biliary system phenotype
  • increased liver iron level (MGI Ref ID J:103440)
    • the liver iron content of homozygous deletant mice at 8 weeks is approximately 3-fold higher than that of wild type mice

Gene & Allele Details

Allele Symbol Del(1)1Brk
Allele Name deletion, Chr 1, Jane Barker 1
Common Name(s) Del1Brk; Steap3nm1054; nm1054;
Strain of OriginCBA/J
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 encompasses 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
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; NLK; Org; PGI; PHI; SA-36; glucose phosphate isomerase 1, regulatory; glucose phosphate isomerase 1, structural; glucose phosphate isomerase 1, temporal;
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, C3Heb/FeJ, C57BL/6J, C57BL/6J-ob, SEA/GJ and SWR/J. Sequencing analysis identified four nucleotide differences between this allele and Gpi1b. Two differences were silent, while a third difference at position 282 predicts an aspartate for the a allele and an asparagine for the b allele. A fourth difference in the 3' untranslated region was also noted. [MGI Ref ID J:28033]

Genotyping Protocols

Del(1)1Brk QPCR

Colony Maintenance

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

Related Strains

View Strains carrying   Gpi1b     (3 strains)

View Strains carrying other alleles of Gpi1     (13 strains)

Additional Web Information

Congenic Nomenclature

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

References

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

Price and Supply Information

Strain Name: 129S6.CB(B6)-Del(1)1Brk Gpi1b/Gpi1c/BrkMdfJ
Stock Number: 005730
 

This strain is currently Under Development for Cryopreservation Repository.
To register your interest in this strain go to the Strain Interest Form.

Estimated Available for Sale Date:

Please note: Estimated available for sale dates are provided to keep customers better informed on strains under development. Please note that our Colony Managers routinely monitor the target date and edit it based on breeding performance and other factors. The length of time it takes to make a new strain available for sale depends on genotype, age, number of animals sent by the Donating Investigator, breeding performance, additional strain development (backcrossing, making homozygous), and anticipated demand for the strain/interest registered.

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Supply Details

Standard SupplyUnder Development for Cryopreservation Repository
Supply Notes This strain is included in the Mouse Mutant Resource collection.
LicensingSee General Terms and Conditions below  

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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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