Strain Name:

CByJ.A-Ttc7fsn/J

Stock Number:

001723

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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 CByJ.A-fsn/J    (Changed: 15-APR-05 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
H2 Haplotyped
GenerationN10F31pN1
Generation Definitions

Appearance
albino, unaffected
Related Genotype: A/A Tyrp1b/Tyrp1b Tyrc/Tyrc Ttc7fsn/+ or A/A Tyrp1b/Tyrp1b Tyrc/Tyrc +/+

albino, pale skin, rough coat, alopecia
Related Genotype: A/A Tyrp1b/Tyrp1b Tyrc/Tyrc Ttc7fsn/Ttc7fsn

Description
Homozygous fsn mice suffer from hypochromic and normocytic anemia at birth which becomes more severe with age. The anemia makes the homozygous mice distinguishable as pups because of the pale color of ears and eyes. At 2 weeks of age focal epidermal hyperplasia and inflammation is evident with psoriasiform skin lesions becoming confluent and diffuse in 3-4 week old weanlings. The skin lesions progress to generalized alopecia and shedding of thick white scales. The gross lesions are accompanied by thickening and keratinization of the skin. A progressive paplosquamous disease ensues which is a model for some forms of psoriasis. fsn/fsn mice show hematocrit levels and red blood cell counts that are significantly decreased from birth through adulthood. Consequently the heart, liver and spleen become enlarged but the thymus weight is less than half normal. As the spleen enlarges, the mice also develop a potbellied appearance aiding in homozygous fsn identification. Gastric papillomas are found in the forestomach of fsn homozygotes but there is no papillomavirus associated with the lesions. Examination by scanning electron microscopy reveals a greatly thickened epidermis, sparsity of hairs and scale accumulations on the epidermis. Hair shaft and nail abnormalities are also present. Autoimmunity in homozygous fsn mice is manifested by glomerulonephritis accompanied by immune complex deposition in the kidneys, increased serum blood urea nitrogen levels, and the presence of circulating anti-double-stranded DNA autoantibodies.

Development
The flaky skin mouse mutation, fsn, first arose as a spontaneous mutaion in A/J inbred mice in September 1984 at the Jackson Laboratory. The original mutant mice were runted and the gene was poorly penetrant. While intercrossing the (A/J X BALB/cByJ) fsn/+ parents produced a more vigorous offspring, maintenance was still difficult because of metabolic stress from compromised respiration. The breeding process was improved by grafting fsn/fsn ovaries to ovariectomized severe combine immunodeficiency (scid/scid) hosts followed by cycles of crossing to BALB/cByJ-+/+ males and intercrossing of fsn/+ F1 offspring. Neither fsn/fsn males or females will mate.

Control Information

  Control
   Heterozygote from the colony
   Untyped from the colony
   Wild-type from the colony
   001026 BALB/cByJ
 
  Considerations for Choosing Controls

Additional Web Information

JAX® NOTES, Spring 1996; 465. Husbandry and Phenotypic Description of CB.yA/J-fsn/fsn (Flaky Skin) Mice.

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Ttc7fsn/Ttc7fsn

        CByJ.A-Ttc7fsn
  • cardiovascular system phenotype
  • enlarged heart   (MGI Ref ID J:29200)
  • digestive/alimentary phenotype
  • abnormal stomach epithelium morphology
    • develops papillomatous lesions between glandular and nonglandular junction of stomach   (MGI Ref ID J:30519)
  • growth/size phenotype
  • decreased body weight
  • hematopoietic system phenotype
  • abnormal erythropoiesis
    • elevated numbers of smudge cells in peripheral circulation   (MGI Ref ID J:92699)
    • anemia
      • iron supplemented diet reverses condition   (MGI Ref ID J:92699)
      • mild anemia at birth   (MGI Ref ID J:30519)
      • severity increases with age   (MGI Ref ID J:30519)
    • decreased hematocrit   (MGI Ref ID J:92699)
    • decreased hemoglobin content   (MGI Ref ID J:92699)
    • decreased mean corpuscular volume
      • microcytic red blood cells   (MGI Ref ID J:92699)
    • low mean erythrocyte cell number   (MGI Ref ID J:92699)
  • enlarged spleen
    • potbelly appearance   (MGI Ref ID J:30519)
    • lack of prominent white pulp follicular pattern   (MGI Ref ID J:29200)
  • extramedullary hematopoiesis
    • in liver and spleen   (MGI Ref ID J:92699)
  • small thymus
    • reduction in males not females   (MGI Ref ID J:29200)
  • thymus cortex hypoplasia   (MGI Ref ID J:29200)
  • homeostasis/metabolism phenotype
  • abnormal mineral level
    • elevation in zinc protoporphyrin   (MGI Ref ID J:92699)
    • abnormal iron level
      • reduction in tissue iron storage between 1 week and 5 weeks of age   (MGI Ref ID J:92699)
      • abnormal circulating iron level
        • increase in serum iron levels by 7 days, however, decrease by six weeks in comparison to wildtype   (MGI Ref ID J:92699)
        • elevation (3-fold) in transferrin levels in adult   (MGI Ref ID J:92699)
  • immune system phenotype
  • enlarged spleen
    • potbelly appearance   (MGI Ref ID J:30519)
    • lack of prominent white pulp follicular pattern   (MGI Ref ID J:29200)
  • small thymus
    • reduction in males not females   (MGI Ref ID J:29200)
  • thymus cortex hypoplasia   (MGI Ref ID J:29200)
  • liver/biliary system phenotype
  • enlarged liver   (MGI Ref ID J:29200)
  • integument phenotype
  • abnormal dermal layer morphology
    • dilated dermal capillaries   (MGI Ref ID J:30519)
    • mixed cellular infiltration to dermis
      • dermal inflammatory cell infiltrate   (MGI Ref ID J:30519)
      • keratohyalin abnormalities detected using immunohistochemical profilaggrin staining include numerous macrophages and mast cells at the dermal-epidermal junction in close proximity to focal dissolutions of the basement membrane (basement membrane herniations), a group of ultrastructural aberrations typically found in human psoriasis vulgaris   (MGI Ref ID J:30519)
  • abnormal epidermal layer morphology   (MGI Ref ID J:30519)
    • abnormal epidermis stratum granulosum morphology
      • prominent stratum granulosum   (MGI Ref ID J:30519)
    • acanthosis
    • epidermal hyperplasia   (MGI Ref ID J:30519)
    • hyperkeratosis
      • thickening after first week   (MGI Ref ID J:30519)
      • orthokeratosis   (MGI Ref ID J:30519)
      • parakeratosis
        • focal parakeratosis   (MGI Ref ID J:30519)
  • alopecia
  • flaky skin   (MGI Ref ID J:30519)
  • pallor
    • identified at birth by pale color   (MGI Ref ID J:30519)
  • scaly skin
    • fine scale progresses to thick white flakes   (MGI Ref ID J:30519)
    • ventral abdomen develops fine scale and banding pattern of thinning hair   (MGI Ref ID J:30519)
  • skin lesions
    • progressive   (MGI Ref ID J:30519)

Ttc7fsn/Ttc7fsn

        CByJ.A-Ttc7fsn/J
  • mortality/aging
  • premature death
    • mean life span of homozygotes is 97.8 days   (MGI Ref ID J:115742)

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

Ttc7fsn/Ttc7fsn

        A/J
  • digestive/alimentary phenotype
  • abnormal forestomach morphology
    • forestomach epithelial thickness is significantly greater than wild-type   (MGI Ref ID J:2777)
    • forestomach shows marked exophytic papillary folding with massive production of laminated cornified cells on lumenal surface   (MGI Ref ID J:2777)
  • abnormal stomach mucosa morphology
    • infiltrates of inflammatory cells in lamina propria causes separation of gastric pits and formation of nest-like glandular structures   (MGI Ref ID J:2777)
    • abnormal stomach epithelium morphology
      • forestomach is significantly thicker (200 um) than controls (37 um)   (MGI Ref ID J:2777)
      • abnormal stomach squamous epithelium morphology
        • consists of tortuous gastric pits with many short columnar cells with basilar nuclei   (MGI Ref ID J:2777)
  • stomach inflammation
    • mild to moderate mixed inflammatory infiltrates are found in lamina propria throughout stomach   (MGI Ref ID J:2777)
  • hematopoietic system phenotype
  • anemia
    • packed cell volumes (PCVs) are 22.6 compared to ~45 for controls   (MGI Ref ID J:2777)
  • immune system phenotype
  • stomach inflammation
    • mild to moderate mixed inflammatory infiltrates are found in lamina propria throughout stomach   (MGI Ref ID J:2777)
  • tumorigenesis
  • increased papilloma incidence
    • mice develop gastric papillomas, with greater frequency than controls   (MGI Ref ID J:2777)

Ttc7fsn/Ttc7fsn

        involves: A/J * BALB/cByJ
  • integument phenotype
  • abnormal epidermal layer morphology
    • layer is abnormally thick and TEM images show an infiltration of neutrophils   (MGI Ref ID J:29609)
    • abnormal keratinocyte morphology
      • TEM images show mitochondrial abnormalities   (MGI Ref ID J:29609)
    • abnormal keratohyalin granule morphology   (MGI Ref ID J:29609)
    • hypergranulosis
      • can be modulated by genetic background; not typical of an A/J background   (MGI Ref ID J:29609)
    • thick epidermis   (MGI Ref ID J:29609)
  • abnormal hair shaft morphology
    • SEM shows pits, striations, and exophytic protrusions typify hair shaft appearance   (MGI Ref ID J:29609)
  • abnormal nail morphology
    • nails are bent at a 90 degree angle, have surface irregularities with accumulation of scale at the nail base   (MGI Ref ID J:29609)
    • deformed nails   (MGI Ref ID J:29609)
View Research Applications

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

Ttc7fsn related

Dermatology Research
Skin and Hair Texture Defects
      psoriasis

Endocrine Deficiency Research
Bone/Bone Marrow Defects
Gastrointestinal Defects
Skin Defects
Thyroid Defects

Hematological Research
Anemia, Iron Deficiency and Transport Defects

Immunology and Inflammation Research
Autoimmunity
      anti-dsDNA antibodies
Inflammation

Internal/Organ Research
Gastrointestinal Defects
Lymphoid Tissue Defects
Thymus Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Ttc7fsn
Allele Name flaky skin
Allele Type Spontaneous
Common Name(s) fsn;
Strain of OriginA/J
Gene Symbol and Name Ttc7, tetratricopeptide repeat domain 7
Chromosome 17
Gene Common Name(s) 1110035E02Rik; 1700007L07Rik; RIKEN cDNA 1110035E02 gene; RIKEN cDNA 1700007L07 gene; flaky skin; fsn; hea; hereditary erythroblastic anemia;
General Note The skin disorder is a progressive papulosquamous disease resembling some forms of human psoriasis. The cutaneous phenotype can be transferred with bone marrow grafts to Prkdcscid homozygous mice (J:14506). Full thickness skin grafts to Foxn1nu homozygotes retain the psoriasiform phenotype in this host lacking T cells (J:18002).
Phenotypic Similarity to Human Syndrome: Psoriasis
Molecular Note An ETn early transposon insertion of 183 bp occurred in intron 1`4, 57 bp upstream of exon 15. [MGI Ref ID J:97094]

Genotyping

Genotyping Information

Genotyping Protocols

Ttc7fsn, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Beamer WG; Pelsue SC; Shultz LD; Sundberg JP; Barker JE. 1995. The flaky skin (fsn) mutation in mice: map location and description of the anemia. Blood 86(8):3220-6. [PubMed: 7579418]  [MGI Ref ID J:29200]

Pelsue SC; Schweitzer PA; Beamer WG; Shultz LD. 1995. Mapping of the flaky skin (fsn) mutation on distal mouse chromosome 17 (Errata; Mamm Genome 1996; 7:92.) Mamm Genome 6(10):758. [PubMed: 8563181]  [MGI Ref ID J:29390]

Schon M; Behmenburg C; Denzer D; Schon MP. 2001. Pathogenic function of IL-1 beta in psoriasiform skin lesions of flaky skin (fsn/fsn) mice. Clin Exp Immunol 123(3):505-10. [PubMed: 11298140]  [MGI Ref ID J:68791]

Sundberg JP; France M; Boggess D; Sundberg BA; Jenson AB; Beamer WG; Shultz LD. 1997. Development and progression of psoriasiform dermatitis and systemic lesions in the flaky skin (fsn) mouse mutant. Pathobiology 65(5):271-86. [PubMed: 9459497]  [MGI Ref ID J:44913]

Sundberg JP; Kenty GA; Beamer WG; Adkison DL. 1992. Forestomach papillomas in flaky skin and steel-Dickie mutant mice. J Vet Diagn Invest 4(3):312-7. [PubMed: 1325193]  [MGI Ref ID J:2777]

Ttc7fsn related

Abernethy NJ; Hagan C; Tan PL; Birchall NM; Watson JD. 2000. The peripheral lymphoid compartment is disrupted in flaky skin mice. Immunol Cell Biol 78(1):5-12. [PubMed: 10651923]  [MGI Ref ID J:110406]

Abernethy NJ; Hagan C; Tan PL; Watson JD. 2000. Dysregulated expression of CD69 and IL-2 receptor alpha and beta chains on CD8+ T lymphocytes in flaky skin mice. Immunol Cell Biol 78(6):596-602. [PubMed: 11114969]  [MGI Ref ID J:66022]

Beamer WG; Pelsue SC; Shultz LD; Sundberg JP; Barker JE. 1995. The flaky skin (fsn) mutation in mice: map location and description of the anemia. Blood 86(8):3220-6. [PubMed: 7579418]  [MGI Ref ID J:29200]

Gudjonsson JE; Johnston A; Dyson M; Valdimarsson H; Elder JT. 2007. Mouse models of psoriasis. J Invest Dermatol 127(6):1292-308. [PubMed: 17429444]  [MGI Ref ID J:121548]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

Mattsson N; Duzevik EG; Pelsue SC. 2005. Expansion of CD22(lo) B cells in the spleen of autoimmune-prone flaky skin mice. Cell Immunol 234(2):124-32. [PubMed: 16054613]  [MGI Ref ID J:100560]

Morita K; Hogan ME; Nanney LB; King LE Jr; Manabe M; Sun TT; Sundberg JP. 1995. Cutaneous ultrastructural features of the flaky skin (fsn) mouse mutation. J Dermatol 22(6):385-95. [PubMed: 7650236]  [MGI Ref ID J:29609]

Nanney LB; Sundberg JP; King LE. 1996. Increased epidermal growth factor receptor in fsn/fsn mice. J Invest Dermatol 106(6):1169-74. [PubMed: 8752652]  [MGI Ref ID J:33491]

Nishimura H; Strominger JL. 2006. Involvement of a tissue-specific autoantibody in skin disorders of murine systemic lupus erythematosus and autoinflammatory diseases. Proc Natl Acad Sci U S A 103(9):3292-7. [PubMed: 16492738]  [MGI Ref ID J:107174]

Pelsue SC; Schweitzer PA; Schweitzer IB; Christianson SW; Gott B ; Sundberg JP ; Beamer WG ; Shultz LD. 1998. Lymphadenopathy, elevated serum IgE levels, autoimmunity, and mast cell accumulation in flaky skin mutant mice. Eur J Immunol 28(4):1379-88. [PubMed: 9565378]  [MGI Ref ID J:47497]

Schon M; Behmenburg C; Denzer D; Schon MP. 2001. Pathogenic function of IL-1 beta in psoriasiform skin lesions of flaky skin (fsn/fsn) mice. Clin Exp Immunol 123(3):505-10. [PubMed: 11298140]  [MGI Ref ID J:68791]

Schon M; Denzer D; Kubitza RC; Ruzicka T; Schon MP. 2000. Critical role of neutrophils for the generation of psoriasiform skin lesions in flaky skin mice. J Invest Dermatol 114(5):976-83. [PubMed: 10771480]  [MGI Ref ID J:62094]

Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Sundberg JP; Boggess D; Sundberg BA; Beamer WG; Shultz LD. 1993. Epidermal dendritic cell populations in the flaky skin mutant mouse. Immunol Invest 22(5):389-401. [PubMed: 8406628]  [MGI Ref ID J:14506]

Sundberg JP; Dunstan RW; Roop DR; Beamer WG. 1994. Full-thickness skin grafts from flaky skin mice to nude mice: maintenance of the psoriasiform phenotype. J Invest Dermatol 102(5):781-8. [PubMed: 8176263]  [MGI Ref ID J:18002]

Sundberg JP; France M; Boggess D; Sundberg BA; Jenson AB; Beamer WG; Shultz LD. 1997. Development and progression of psoriasiform dermatitis and systemic lesions in the flaky skin (fsn) mouse mutant. Pathobiology 65(5):271-86. [PubMed: 9459497]  [MGI Ref ID J:44913]

Sundberg JP; HogenEsch H; King Jr LE. 1996. 6. Mouse Models for Scaly Skin Diseases. In: Dermatologic Research Techniques. CRC Press, New York.  [MGI Ref ID J:30519]

Sundberg JP; Kenty GA; Beamer WG; Adkison DL. 1992. Forestomach papillomas in flaky skin and steel-Dickie mutant mice. J Vet Diagn Invest 4(3):312-7. [PubMed: 1325193]  [MGI Ref ID J:2777]

Sundberg JP; Sundberg BA; Beamer WG. 1997. Comparison of chemical carcinogen skin tumor induction efficacy in inbred, mutant, and hybrid strains of mice: Morphologic variations of induced tumors and absence of a papillomavirus cocarcinogen. Mol Carcinog 20(1):19-32. [PubMed: 9328433]  [MGI Ref ID J:43880]

Takabayashi S; Katoh H. 2005. A mutant mouse with severe anemia and skin abnormalities controlled by a new allele of the flaky skin (fsn) locus. Exp Anim 54(4):339-47. [PubMed: 16093647]  [MGI Ref ID J:115742]

Welner R; Hastings W; Hill BL; Pelsue SC. 2004. Hyperactivation and proliferation of lymphocytes from the spleens of flaky skin (fsn) mutant mice. Autoimmunity 37(3):227-35. [PubMed: 15497457]  [MGI Ref ID J:102002]

White RA; McNulty SG; Nsumu NN; Boydston LA; Brewer BP; Shimizu K. 2005. Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice. Genomics 85(3):330-7. [PubMed: 15718100]  [MGI Ref ID J:97094]

White RA; McNulty SG; Roman S; Garg U; Wirtz E; Kohlbrecher D; Nsumu NN; Pinson D; Gaedigk R; Blackmore K; Copple A; Rasul S; Watanabe M; Shimizu K. 2004. Chromosomal localization, hematologic characterization, and iron metabolism of the hereditary erythroblastic anemia (hea) mutant mouse. Blood 104(5):1511-8. [PubMed: 15155459]  [MGI Ref ID J:92699]

Withington S; Maltby-Askari E; Welner R; Parker R; Pelsue SC. 2002. Antinuclear autoantibodies in flaky skin (fsn) mutant mice. Autoimmunity 35(3):175-81. [PubMed: 12389642]  [MGI Ref ID J:103137]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

Purchasing information

Pricing, Supply Level & Notes, Controls


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Order this mouse

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $1980.00
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 for further information.

Supply Notes

  • Cryorecovery - Standard.
    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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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
Order this mouse

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2574.00
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 for further information.

Supply Notes

  • Cryorecovery - Standard.
    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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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 for further information.

General Supply Notes

Control Information

  Control
   Heterozygote from the colony
   Untyped from the colony
   Wild-type from the colony
   001026 BALB/cByJ
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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