Strain Name:

C57BL/6J-Lbric-J/J

Stock Number:

000529

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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 C57BL/6J-icJ    (Changed: 15-DEC-04 )
Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
Generation+N3F1N1
Generation Definitions

Description
Lbric-J/Lbric-J homozygotes can be identified at 2 weeks of age due to sparse fur and at 3-4 weeks of age scales develop on the tail and, to a lesser degree, on the trunk. These mutants are smaller than their wild type siblings. The mutants develop mild epidermal hyperplasia with orthokeratotic hyperkeratosis and dilation of the piliary canals. Homozygotes have an increased incidence of syndactyly and hydrocephaly, and a high prenatal mortality rate. Aberrant morphology of nuclear heterochromatin occurs in lymphocytes, neutrophils, eosinophils, intestinal epithelium, and cerebellar granule cells. Electron microscopy reveals clumps of heterochromatin at the periphery of the nucleus within splenic lymphocytes. These mice are a model for Pelger-Huet anomaly, which is associated with mutations in LBR, although the skin pathology is specific to the mouse mutation. (Eicher, 1976; Hoffmann et al., 2002; Shultz et al., 2003.)

Development
The ic-J allele of Lbr arose on C57BL/6JEi at The Jackson Laboratory in 1974. Embryos produced by breeding C57BL/6J females with heterozygous males at generation F108+2N3F1 were frozen in 1981 and 1982 at The Jackson Laboratory. (Eicher, 1976.)

Control Information

  Control
   Untyped from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Pelger-Huet Anomaly; PHA
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Ichthyosis Vulgaris
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Greenberg Dysplasia; GRBGD   (LBR)
Reynolds Syndrome   (LBR)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Lbric-J/Lbr+

        C57BL/6J-Lbric-J
  • hematopoietic system phenotype
  • abnormal granulocyte morphology
    • in blood smears, nuclei of small number of granulocytes display decreased lobation compared to wild-type cells   (MGI Ref ID J:80915)
  • immune system phenotype
  • abnormal granulocyte morphology
    • in blood smears, nuclei of small number of granulocytes display decreased lobation compared to wild-type cells   (MGI Ref ID J:80915)

Lbric-J/Lbric-J

        C57BL/6J-Lbric-J
  • mortality/aging
  • partial perinatal lethality
    • about 50% of homozygotes die in utero or shortly after birth   (MGI Ref ID J:80915)
  • partial prenatal lethality
    • about 50% of homozygotes die in utero or shortly after birth   (MGI Ref ID J:80915)
  • growth/size/body phenotype
  • decreased body size
    • at 2 weeks of age, homozygotes display decreased body size   (MGI Ref ID J:80915)
  • hematopoietic system phenotype
  • abnormal eosinophil morphology
    • in blood smears, eosinophil nuclei are mostly bilobed, compared to band nuclei in wild-type   (MGI Ref ID J:80915)
    • in bone marrow, nuclei have single heterochromatin clump   (MGI Ref ID J:80915)
  • abnormal lymphocyte morphology
    • cells in spleen, lymph nodes, thymus, and Peyer's patches show nuclear chromatin clumping usually into -4 masses at periphery of nucleus   (MGI Ref ID J:80915)
    • lymphocytes in blood smears show heterochromatin clumping   (MGI Ref ID J:80915)
    • lymphocytes in spleens show discrete masses of heterochromatin at edge of nuclear membrane with no indentation of membrane, compared to pernuclear and perinucleolar heterochromatin in wild-type cells   (MGI Ref ID J:80915)
  • abnormal neutrophil morphology
    • nuclei in blood smears vary in morphology from bilobed appearance to individual clump of heterochromatin, in contrast to polymorphonuclear appearance of wild-type nuclei   (MGI Ref ID J:80915)
    • in bone marrow, nuclei have single heterochromatin clump   (MGI Ref ID J:80915)
  • immune system phenotype
  • abnormal eosinophil morphology
    • in blood smears, eosinophil nuclei are mostly bilobed, compared to band nuclei in wild-type   (MGI Ref ID J:80915)
    • in bone marrow, nuclei have single heterochromatin clump   (MGI Ref ID J:80915)
  • abnormal lymphocyte morphology
    • cells in spleen, lymph nodes, thymus, and Peyer's patches show nuclear chromatin clumping usually into -4 masses at periphery of nucleus   (MGI Ref ID J:80915)
    • lymphocytes in blood smears show heterochromatin clumping   (MGI Ref ID J:80915)
    • lymphocytes in spleens show discrete masses of heterochromatin at edge of nuclear membrane with no indentation of membrane, compared to pernuclear and perinucleolar heterochromatin in wild-type cells   (MGI Ref ID J:80915)
  • abnormal neutrophil morphology
    • nuclei in blood smears vary in morphology from bilobed appearance to individual clump of heterochromatin, in contrast to polymorphonuclear appearance of wild-type nuclei   (MGI Ref ID J:80915)
    • in bone marrow, nuclei have single heterochromatin clump   (MGI Ref ID J:80915)
  • nervous system phenotype
  • dilated lateral ventricles
    • brains of mutants showing hydrocephalus display marked dilation of lateral ventricles   (MGI Ref ID J:80915)
  • hydroencephaly
    • occasional mutants exhibit hydrocephalus   (MGI Ref ID J:80915)
  • limbs/digits/tail phenotype
  • syndactyly
    • some mutants (3 homozygotes analyzed) show syndactyly affecting one or more paws   (MGI Ref ID J:80915)
  • cellular phenotype
  • abnormal cell nucleus morphology
    • nuclei of various cell populations (including intestinal epithelial cells and cerebellar granule cells) display chromatin clumping   (MGI Ref ID J:80915)
  • integument phenotype
  • epidermal hyperplasia
    • histologically, mice display mild hyperplasia with orthokeratotic hyperkeratosis and dilation of piliary canals   (MGI Ref ID J:80915)
  • hyperkeratosis   (MGI Ref ID J:80915)
  • scaly skin
    • at 3-4 weeks, mice develop scales on tail and to lesser degree on truncal skin   (MGI Ref ID J:80915)
  • sparse hair
    • at 2 weeks of age, homozygotes can be identified by sparseness of fur   (MGI Ref ID J:80915)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Lbric-J/Lbric-J

        involves: 129S4/SvJae * C57BL/6
  • growth/size/body phenotype
  • postnatal growth retardation
    • by 9 days of age   (MGI Ref ID J:143838)
  • immune system phenotype
  • abnormal neutrophil differentiation
    • Pelger-Huet anomaly by 9 days of age   (MGI Ref ID J:143838)
  • abnormal spleen morphology
    • chromatin clumping in spleen cells seen by electron microscopy   (MGI Ref ID J:143838)
  • skeleton phenotype
  • abnormal long bone epiphyseal plate morphology
    • tibial growth plates are markedly disorganized   (MGI Ref ID J:143838)
  • abnormal trabecular bone morphology
    • immature trabecular bone with residual cartilage   (MGI Ref ID J:143838)
  • limbs/digits/tail phenotype
  • syndactyly   (MGI Ref ID J:143838)
  • hematopoietic system phenotype
  • abnormal neutrophil differentiation
    • Pelger-Huet anomaly by 9 days of age   (MGI Ref ID J:143838)
  • abnormal spleen morphology
    • chromatin clumping in spleen cells seen by electron microscopy   (MGI Ref ID J:143838)
  • integument phenotype
  • dry skin
    • ichthyosis by 9 days of age   (MGI Ref ID J:143838)
  • scaly skin
    • ichthyosis by 9 days of age   (MGI Ref ID J:143838)
  • sparse hair
    • by 9 days of age   (MGI Ref ID J:143838)
  • cellular phenotype
  • abnormal neutrophil differentiation
    • Pelger-Huet anomaly by 9 days of age   (MGI Ref ID J:143838)
View Research Applications

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

Lbric-J related

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Embryonic Lethality (Homozygous)
Growth Defects
      Growth Defects (homozygous)
Skeletal Defects
      hydrocephaly
      syndactyly

Hematological Research
Immunological Defects

Reproductive Biology Research
Fertility Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Lbric-J
Allele Name ichthyosis Jackson
Allele Type Spontaneous
Common Name(s) icJ;
Strain of OriginC57BL/6J
Gene Symbol and Name Lbr, lamin B receptor
Chromosome 1
Gene Common Name(s) AI505894; DHCR14B; LMN2R; Nbp60; PHA; TDRD18; expressed sequence AI505894; ic; ichthyosis;
Molecular Note This phenotypic mutant was found to be allelic to ic by complementation testing. The mutation in the Lbric-J mouse was identified as 2 bp insertion at position 1088. This insertion results in a frame shift, changing amino acids 365-385, and creates a premature stop codon at amino acid position 386. [MGI Ref ID J:80915]

Genotyping

Genotyping Information

Genotyping Protocols

Lbric-J, Pyrosequencing


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Lbric-J related

Eicher EM. 1976. Spontaneous mutations - streaker (nu<str>) and ichthyosis (ic<J>) Mouse News Lett 54:40.  [MGI Ref ID J:24755]

Gaines P; Tien CW; Olins AL; Olins DE; Shultz LD; Carney L; Berliner N. 2008. Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses. Exp Hematol 36(8):965-76. [PubMed: 18550262]  [MGI Ref ID J:139357]

Shultz LD; Lyons BL; Burzenski LM; Gott B; Samuels R; Schweitzer PA; Dreger C; Herrmann H; Kalscheuer V; Olins AL; Olins DE; Sperling K; Hoffmann K. 2003. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Hum Mol Genet 12(1):61-9. [PubMed: 12490533]  [MGI Ref ID J:80915]

Solovei I; Wang AS; Thanisch K; Schmidt CS; Krebs S; Zwerger M; Cohen TV; Devys D; Foisner R; Peichl L; Herrmann H; Blum H; Engelkamp D; Stewart CL; Leonhardt H; Joffe B. 2013. LBR and Lamin A/C Sequentially Tether Peripheral Heterochromatin and Inversely Regulate Differentiation. Cell 152(3):584-98. [PubMed: 23374351]  [MGI Ref ID J:193454]

Verhagen AM; de Graaf CA; Baldwin TM; Goradia A; Collinge JE; Kile BT; Metcalf D; Starr R; Hilton DJ. 2012. Reduced lymphocyte longevity and homeostatic proliferation in lamin B receptor-deficient mice results in profound and progressive lymphopenia. J Immunol 188(1):122-34. [PubMed: 22105998]  [MGI Ref ID J:180355]

Wassif CA; Brownson KE; Sterner AL; Forlino A; Zerfas PM; Wilson WK; Starost MF; Porter FD. 2007. HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Hum Mol Genet 16(10):1176-87. [PubMed: 17403717]  [MGI Ref ID J:143838]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

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

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* $3300.00
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 10 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* $4290.00
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 10 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.

Control Information

  Control
   Untyped from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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