Strain Name:

B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/J

Stock Number:

000305

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Absence of otoliths in the inner ear leads these mice to display abnormal behavior and head tilting. These mice also exhibit platelet storage pool deficiency, abnormal kidney physiology, and abnormal respiratory system physiology resulting in emphysema.

Description

Strain Information

Former Names B6.Cg-Fbn1Tsk +/+ Pldnpa/J    (Changed: 27-AUG-12 )
Type Congenic; Mutant Strain;
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Specieslaboratory mouse
Background Strain C57BL/6
Donor Strain Fbn1Tsk, C57BL/10Sn via B10.D2(58N); Bloc1s6pa, wild-trapped mouse
GenerationF141 (12-DEC-13)
Generation Definitions

Appearance
Fbn1Tsk: black, tight skin
Related Genotype: a/a Fbn1Tsk +/+ Bloc1s6pa

Bloc1s6pa: pink-eyed; light, yellow brown coat
Related Genotype: a/a + Bloc1s6pa/+ Bloc1s6pa

Description
Mice homozygous for the pallid spontaneous mutation Bloc1s6pa and nonagouti (a) have pink eyes and a light, yellow-brown coat. The Bloc1s6pa/Bloc1s6pa mice have a slightly lighter coat than strains that are homozygous for the pink-eyed dilution allele (Oca2p/Oca2p). Viability of homozygous mutant mice is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosidase, and a-mannosidase, accompanied by lowered enzyme excretion in the urine. Pallid mice have a deficiency in serum a1-antitrypsin and have been proposed as a model of genetic a1-antitrypsin deficiency. Lung lesions similar to those seen in human emphysema are found in these mice, and are attributed, like human hereditary emphysema, to a decreased capacity to inhibit serum elastase although liver a1-antitrypsin activity is normal. Pallid mice have prolonged bleeding time due to a platelet storage pool deficiency (SPD) characterized by a normal platelet number but a deficiency in the number of platelet dense granules and in the serotonin, ATP, and ADP content of the granules. Two other mouse coat color mutants, muted (Bloc1s5mu) and mocha (Ap3d1mh), present a similar concatenation of pigment, otolith, and platelet SPD abnormalities, which also occur in human Hermansky-Pudlak syndrome. The pallid mutation is maintained in repulsion with the semidominant tight skin spontaneous mutation (Fbn1Tsk).

Control Information

  Control
   + Bloc1s6pa/+ Bloc1s6pa from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Bloc1s6pa allele
000477   B10.PA-Bloc1s6pa H3e at/SnJ
000024   B6.Cg-Bloc1s6pa/J
View Strains carrying   Bloc1s6pa     (2 strains)

Strains carrying   Fbn1Tsk allele
014632   B6.Cg-Fbn1Tsk/J
View Strains carrying   Fbn1Tsk     (1 strain)

Strains carrying other alleles of Fbn1
025473   B6.129(FVB)-Fbn1tm2.1Hcd/J
025474   B6.129(FVB)-Fbn1tm3.1Hcd/J
012885   B6.129-Fbn1tm1Hcd/J
005704   B6.129-Fbn1tm2Rmz/J
View Strains carrying other alleles of Fbn1     (4 strains)

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).
Marfan Syndrome; MFS
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Emphysema, Hereditary Pulmonary
Scleroderma, Familial Progressive
Storage Pool Platelet Disease
- No similarity to the expected human disease phenotype was found. One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of these genes, but the phenotype did not resemble the disease.
Pituitary Adenoma, Growth Hormone-Secreting
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Acromicric Dysplasia; ACMICD   (FBN1)
Ectopia Lentis 1, Isolated, Autosomal Dominant; ECTOL1   (FBN1)
Geleophysic Dysplasia 2; GPHYSD2   (FBN1)
Hermansky-Pudlak Syndrome 9; HPS9   (BLOC1S6)
MASS Syndrome   (FBN1)
Stiff Skin Syndrome; SSKS   (FBN1)
Weill-Marchesani Syndrome 2; WMS2   (FBN1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Bloc1s6pa/Bloc1s6pa

        B6.Cg-Bloc1s6pa/J
  • mortality/aging
  • premature death
    • survival beyond 16 months of age reduced to about 40%   (MGI Ref ID J:53228)
  • pigmentation phenotype
  • abnormal melanosome morphology
    • immature melanosomes found in follicular melanocytes   (MGI Ref ID J:80751)
    • increased numbers of multivesicular forms   (MGI Ref ID J:80751)
    • striated forms more frequent as well but are usually misshapen and with irregular pigment   (MGI Ref ID J:80751)
    • do not increase in size with maturation   (MGI Ref ID J:80751)
  • diluted coat color
    • display a generalized pigmented dilution   (MGI Ref ID J:99881)
  • ocular albinism
    • near total iris albinism   (MGI Ref ID J:141035)
  • respiratory system phenotype
  • abnormal lung morphology
    • "honeycomb" effect on lung architecture   (MGI Ref ID J:53228)
    • at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen   (MGI Ref ID J:4098)
    • by 12 months of age changes in lung morphology become more severe   (MGI Ref ID J:4098)
    • prior to 8 months of age no abnormalities are detected in the lung   (MGI Ref ID J:4098)
    • abnormal lung interstitium morphology
      • at 8 months of age the interstitial matrix appears disorganized due to the presence of cytoplasmic remnants in the alveolar interstitium   (MGI Ref ID J:4098)
      • at 12 months of age large lipid droplets and edema are seen in patches of the interstitium   (MGI Ref ID J:4098)
    • abnormal pulmonary alveolus morphology
      • by 16 months of age, enlarged airspaces and destruction of alveolar tissue   (MGI Ref ID J:88021)
      • cellular debris in the alveolar spaces is seen in mice at 8 months of age   (MGI Ref ID J:4098)
      • at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction   (MGI Ref ID J:4098)
      • abnormal pulmonary alveolus epithelium morphology
        • at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen   (MGI Ref ID J:4098)
    • emphysema
      • emphysematous lesions are seen beginning at 12 months of age   (MGI Ref ID J:4098)
  • abnormal respiratory system physiology
    • lung elastin levels are significantly reduced compared to controls   (MGI Ref ID J:4098)
    • abnormal lung volume
      • lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls   (MGI Ref ID J:4098)
    • abnormal respiratory mechanics
      • lung reactance values decrease with age relative to controls   (MGI Ref ID J:88021)
    • emphysema
      • emphysematous lesions are seen beginning at 12 months of age   (MGI Ref ID J:4098)
    • lung inflammation
      • at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells   (MGI Ref ID J:4098)
    • pulmonary edema
      • at 12 months of age edema is seen in patches of the interstitium   (MGI Ref ID J:4098)
  • homeostasis/metabolism phenotype
  • abnormal blood homeostasis
    • serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls   (MGI Ref ID J:4098)
    • abnormal platelet activation
      • reduced serotonin release after thrombin activation   (MGI Ref ID J:7327)
      • lysosomal enzyme secretion after thrombin activation about half normal   (MGI Ref ID J:7327)
    • increased bleeding time
      • greater than 15 minutes   (MGI Ref ID J:7327)
  • abnormal urine enzyme level
    • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice   (MGI Ref ID J:6219)
  • decreased platelet serotonin level
    • platetelet serotonin levels less than 1% of normal   (MGI Ref ID J:7327)
  • pulmonary edema
    • at 12 months of age edema is seen in patches of the interstitium   (MGI Ref ID J:4098)
  • renal/urinary system phenotype
  • abnormal kidney physiology
    • kidney beta-glucuronidase levels increased 2.5X   (MGI Ref ID J:6219)
    • kidney levels of beta-galactosidase and alpha-mannosidase increased   (MGI Ref ID J:6219)
    • increased rate of lysosomal enzyme synthesis in kidneys   (MGI Ref ID J:6219)
  • abnormal urine enzyme level
    • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice   (MGI Ref ID J:6219)
  • behavior/neurological phenotype
  • ataxia
    • exaggerated ataxia in some mice after a swim test   (MGI Ref ID J:5215)
  • head tilt
    • seen in about 25% of homozygotes   (MGI Ref ID J:5215)
  • impaired balance
    • sometimes seen to roll over at the end of a swim test   (MGI Ref ID J:5215)
  • impaired swimming   (MGI Ref ID J:89392)
    • erratic swimming pattern in some mice with head tilt   (MGI Ref ID J:5215)
    • 55/99 mice unable to swim - related to absence of normal otoliths   (MGI Ref ID J:5215)
  • tonic seizures
    • momentary, in mice displaying head tilt when first placed in water for a swim test   (MGI Ref ID J:5215)
  • hearing/vestibular/ear phenotype
  • abnormal linear vestibular evoked potential
    • variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present   (MGI Ref ID J:89392)
    • mice with absent otoconia show absent vestibular compound action potentials   (MGI Ref ID J:89392)
  • abnormal otolith morphology   (MGI Ref ID J:89392)
    • variable presence of otoliths - from normal to complete absence   (MGI Ref ID J:5215)
    • otolith development improves by maternal feeding with increased levels of manganese during early gestation   (MGI Ref ID J:5215)
  • hematopoietic system phenotype
  • abnormal NK cell physiology
    • lower natural killer cell activity   (MGI Ref ID J:6801)
  • abnormal platelet activation
    • reduced serotonin release after thrombin activation   (MGI Ref ID J:7327)
    • lysosomal enzyme secretion after thrombin activation about half normal   (MGI Ref ID J:7327)
  • abnormal platelet dense granule number
    • fewer dense granules per platelet   (MGI Ref ID J:7327)
  • decreased platelet ADP level
    • platelet ADP levels are a third to a half that of C57BL/6J controls   (MGI Ref ID J:7327)
  • decreased platelet ATP level
    • platelet ATP levels are about half that of C57BL/6J controls   (MGI Ref ID J:7327)
  • decreased platelet serotonin level
    • platetelet serotonin levels less than 1% of normal   (MGI Ref ID J:7327)
  • nervous system phenotype
  • tonic seizures
    • momentary, in mice displaying head tilt when first placed in water for a swim test   (MGI Ref ID J:5215)
  • cellular phenotype
  • abnormal lysosome physiology
    • significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts   (MGI Ref ID J:6801)
  • immune system phenotype
  • abnormal NK cell physiology
    • lower natural killer cell activity   (MGI Ref ID J:6801)
  • lung inflammation
    • at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells   (MGI Ref ID J:4098)
  • vision/eye phenotype
  • ocular albinism
    • near total iris albinism   (MGI Ref ID J:141035)
  • growth/size/body phenotype
  • increased body weight
    • at 12 months of age but not at 8 or 28 months of age   (MGI Ref ID J:4098)
  • integument phenotype
  • *normal* integument phenotype
    • electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition   (MGI Ref ID J:68448)
    • diluted coat color
      • display a generalized pigmented dilution   (MGI Ref ID J:99881)

Fbn1Tsk Bloc1s6+/Fbn1+ Bloc1s6pa

        B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/J
  • cellular phenotype
  • *normal* cellular phenotype
    • immunohistochemistry of endothelial cells from interscapular skin sections does not show indication of abnormal apoptosis, a symptom found in human scleroderma   (MGI Ref ID J:55591)
  • hematopoietic system phenotype
  • *normal* hematopoietic system phenotype
    • no aberrant bleeding time after tail vein nick   (MGI Ref ID J:29151)
  • cardiovascular system phenotype
  • abnormal vascular endothelial cell physiology   (MGI Ref ID J:81020)
  • abnormal vasodilation   (MGI Ref ID J:81020)
  • muscle phenotype
  • abnormal vasodilation   (MGI Ref ID J:81020)

Fbn1Tsk/Fbn1+

        B6.Cg-Fbn1Tsk
  • respiratory system phenotype
  • abnormal lung morphology   (MGI Ref ID J:30961)
    • abnormal bronchiole morphology
      • dilation of bronchioles   (MGI Ref ID J:30961)
    • abnormal pulmonary alveolus morphology   (MGI Ref ID J:3934)
      • thinning and destruction of alveolar walls   (MGI Ref ID J:30961)
      • numerous broken alveolar septa and bullous lesions   (MGI Ref ID J:30961)
      • alveoli are irregular in size, with most appearing enlarged   (MGI Ref ID J:30961)
      • at 3 weeks of age, alveoli are flattened but not enlarged, however by 4-6 weeks af age, alveoli are enlarged   (MGI Ref ID J:15018)
      • exhibit formation of bullae and subpleural cysts and fragmented elastin in alveolar walls   (MGI Ref ID J:1326)
      • enlargement of air spaces with numerous subpleural cysts and scattered bullae   (MGI Ref ID J:6566)
      • abnormal pulmonary alveolus wall morphology
        • thinning and destruction of alveolar walls   (MGI Ref ID J:30961)
      • overexpanded pulmonary alveoli
        • distension of many alveoli   (MGI Ref ID J:30961)
        • develop enlarged alveoli between 4 and 6 weeks of age   (MGI Ref ID J:15018)
        • enlarged alveoli are 3 to 4 times larger than normal and show a histologic picture of emphysema   (MGI Ref ID J:68448)
    • abnormal pulmonary interalveolar septum morphology
      • progressive destruction of alveolar septa and increase in collagen deposition in the septa that may result from repair of the lung destruction   (MGI Ref ID J:3934)
      • abnormal alveolar pore morphology
        • increase in the number and size of the pores of Kohn   (MGI Ref ID J:6566)
        • alveolar pores in septa are variable in size and increased in number   (MGI Ref ID J:30961)
      • thick pulmonary interalveolar septum
        • diffuse thickening of the septa not affected by emphysematous changes, resulting from a progressive increase in collagen   (MGI Ref ID J:3934)
    • dilated pulmonary alveolar ducts
      • dilation of alveolar ducts   (MGI Ref ID J:30961)
      • enlarged alveolar ducts are first seen at 3 weeks of age   (MGI Ref ID J:15018)
    • emphysema   (MGI Ref ID J:20724)
      • emphysematous lesions are seen at 4 weeks of age   (MGI Ref ID J:15018)
  • increased lung compliance   (MGI Ref ID J:6566)
    • increase in lung compliance   (MGI Ref ID J:30961)
  • increased total lung capacity   (MGI Ref ID J:6566)
    • increase in total lung capacity   (MGI Ref ID J:30961)
  • lung inflammation
    • increased numbers of alveolar macrophages and neutrophils in the interstitium   (MGI Ref ID J:30961)
    • presence of focal collections of mononuclear phagocytes, lymphocytes, and neutrophils in the interstitium   (MGI Ref ID J:6566)
    • alveolitis
      • exhibit alveolitis, with increased numbers of alveolar macrophages and neutrophils in the alveolar lumens   (MGI Ref ID J:30961)
      • macrophage-neutrophil alveolitis is seen at 3 weeks of age, at a time when emphysematous lesions are not yet present   (MGI Ref ID J:15018)
      • presence of focal collections of mononuclear phagocytes, lymphocytes, and neutrophils within alveolar air spaces   (MGI Ref ID J:6566)
  • immune system phenotype
  • abnormal uterine NK cell morphology
    • distribution of granulated metrial gland cells, a uterine natural killer-like cell subset, is abnormal during pregnancy, with cells seen in the antimesometral and lateral decidual regions at E8.5 and in regions between implantation sites until E10.5, however their differentiation progresses normally   (MGI Ref ID J:1377)
  • increased autoantibody level
    • develop anti-nucleolar antibodies and produce significantly higher titers of autoantibodies specific for scleroderma target antigens (topo I, RNA pol I, and Fc gamma R)   (MGI Ref ID J:21987)
    • develop autoantibodies specific for scleroderma target antigens, with a bias toward the use of VHJ558 genes and JH2 and JK2 segments   (MGI Ref ID J:14166)
  • increased mast cell number
    • increase in number and enhanced degree of degranulation of mast cells in the skin   (MGI Ref ID J:8047)
  • increased susceptibility to type IV hypersensitivity reaction
    • develop cell-mediated immunity to elastase-soluble murine lung peptides with age while delayed-type hypersensitivity responses to type I or type IV collagen are not detected   (MGI Ref ID J:7185)
  • lung inflammation
    • increased numbers of alveolar macrophages and neutrophils in the interstitium   (MGI Ref ID J:30961)
    • presence of focal collections of mononuclear phagocytes, lymphocytes, and neutrophils in the interstitium   (MGI Ref ID J:6566)
    • alveolitis
      • exhibit alveolitis, with increased numbers of alveolar macrophages and neutrophils in the alveolar lumens   (MGI Ref ID J:30961)
      • macrophage-neutrophil alveolitis is seen at 3 weeks of age, at a time when emphysematous lesions are not yet present   (MGI Ref ID J:15018)
      • presence of focal collections of mononuclear phagocytes, lymphocytes, and neutrophils within alveolar air spaces   (MGI Ref ID J:6566)
  • hematopoietic system phenotype
  • abnormal uterine NK cell morphology
    • distribution of granulated metrial gland cells, a uterine natural killer-like cell subset, is abnormal during pregnancy, with cells seen in the antimesometral and lateral decidual regions at E8.5 and in regions between implantation sites until E10.5, however their differentiation progresses normally   (MGI Ref ID J:1377)
  • increased mast cell number
    • increase in number and enhanced degree of degranulation of mast cells in the skin   (MGI Ref ID J:8047)
  • cardiovascular system phenotype
  • abnormal aorta tunica adventitia morphology
    • aorta exhibits hyperplasia of loose connective tissue in the adventitia   (MGI Ref ID J:1326)
    • collagen fibers in the aorta are increased and microfibrils surrounding elastin in the adventitia of the aorta are not clearly apparent   (MGI Ref ID J:1326)
  • abnormal heart morphology
    • collagen deposition is increased in the heart   (MGI Ref ID J:24523)
    • type I collagen is increased in the myocardium, perhaps due to reduced activity of negative regulatory sequence   (MGI Ref ID J:24523)
    • 2.5-fold increase in type VI collagen content in myocardium   (MGI Ref ID J:17160)
    • abnormal heart right ventricle morphology
      • increase in collagen content in the right ventricle at 3 months of age; however, by 16 months of age, collagen content returns to normal levels but there is a shift in collagen type due to an increase in type I collagen, and by 24 months of age, again see an increase in collagen content   (MGI Ref ID J:20724)
      • heart right ventricle hypertrophy
        • starts to develop at around 8 months of age   (MGI Ref ID J:20724)
    • cardiac fibrosis
      • exhibit myocardial fibrosis   (MGI Ref ID J:24523)
      • thyroid hormone treatment decreases collagen synthesis and stimulates regression of cardiac fibrosis   (MGI Ref ID J:1562)
  • renal/urinary system phenotype
  • abnormal urinary bladder morphology
    • 70% increase in collagen content and concentration in the bladder at 5-6 months of age   (MGI Ref ID J:3616)
  • abnormal urinary bladder physiology
    • functional bladder capacity appears to be greater   (MGI Ref ID J:3616)
  • polyuria
    • urinate larger volumes more frequently during the light cycle   (MGI Ref ID J:3616)
  • homeostasis/metabolism phenotype
  • *normal* homeostasis/metabolism phenotype
    • no aberrant bleeding time after tail vein nick   (MGI Ref ID J:29151)
  • reproductive system phenotype
  • abnormal uterine NK cell morphology
    • distribution of granulated metrial gland cells, a uterine natural killer-like cell subset, is abnormal during pregnancy, with cells seen in the antimesometral and lateral decidual regions at E8.5 and in regions between implantation sites until E10.5, however their differentiation progresses normally   (MGI Ref ID J:1377)
  • integument phenotype
  • abnormal hypodermis morphology
    • increase in width of the subcutaneous fibrous layer with increasing age   (MGI Ref ID J:8047)
  • abnormal skin morphology
    • significantly greater skin biopsy weights, however percent of water-fat is similar to wild-type   (MGI Ref ID J:7057)
    • hexosamine, uronic acid, and total glycosaminoglycan content is increased in skin   (MGI Ref ID J:7057)
    • abnormal cutaneous collagen fibril morphology
      • electron micrographs of skin show a predominance of abnormally small diameter collagen fibers and the skin shows abundant irregular and wavy collagen bundles   (MGI Ref ID J:68448)
    • abnormal cutaneous microfibril morphology
      • transmission electron microscopy of the upper dermis shows more prominent microfibrillar clusters, which often appear blurred and lacking a discernible striated pattern, but an absence of well-packed elastic fibrils   (MGI Ref ID J:46405)
      • although there is a morphologically normal population of skin microfibrils, approximately 45% of the skin microfibril population has abnromal periodic arrays of beads with indistinct filamentous interbeads and extended periodicity of 112 (+/-11) nm relative to 55 (+/-4) nm in normal microfibrils   (MGI Ref ID J:46405)
      • the abnormal skin microfibrils have an altered response to calcium chelation by EDTA, with diminished shortening of the periodicity of microfibrils and less prominant appearance of beading compared with control microfibrils, and the large microfibril aggregates fail to dissociate   (MGI Ref ID J:46405)
    • skin fibrosis   (MGI Ref ID J:68448)
      • develop skin fibrosis which results originally from collagen I and III overexpression and later collagen VI overexpression   (MGI Ref ID J:26096)
      • unlike human scleroderma, fibrosis does not manifest Tgfb1 mRNA in areas of abnormal collagen deposition   (MGI Ref ID J:26096)
    • thick skin
      • skin is 228 um thick on average instead of the wildtype 132 um   (MGI Ref ID J:68448)
  • abnormal skin physiology
    • cultured skin fibroblasts synthesize almost 5 times more Type I and Type III procollagen mRNA indicating production of excessive amounts of collagen   (MGI Ref ID J:8140)
    • fibroblasts synthesize increased collagen both constitutively and in response to IL4 or TGFB, although IL13 does not increase fibroblast collagen synthesis   (MGI Ref ID J:68448)
  • embryogenesis phenotype
  • abnormal uterine NK cell morphology
    • distribution of granulated metrial gland cells, a uterine natural killer-like cell subset, is abnormal during pregnancy, with cells seen in the antimesometral and lateral decidual regions at E8.5 and in regions between implantation sites until E10.5, however their differentiation progresses normally   (MGI Ref ID J:1377)

Fbn1Tsk/Fbn1+

        B6.Cg-Fbn1Tsk +/+ Bloc1s6pa/JKcc
  • cardiovascular system phenotype
  • abnormal aorta elastin content
    • in 3 week old mice fragmentation of elastic lamellae is seen in van-Gieson stained histological sections of the ascending aorta   (MGI Ref ID J:63844)
  • integument phenotype
  • abnormal dermal layer morphology   (MGI Ref ID J:63844)
    • abnormal dermis reticular layer morphology
      • Trichrome-stained sections of adult skin show loose connective tissue contains excessive collagen fibers tightly bound to the muscle layer   (MGI Ref ID J:63844)
      • abnormal dermis reticular layer collagen network
        • Trichrome-stained sections of adult skin show loose connective tissue contains excessive collagen fibers tightly bound to the muscle layer   (MGI Ref ID J:63844)

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

Bloc1s6pa/Bloc1s6pa

        involves: wild-derived
  • vision/eye phenotype
  • decreased eye pigmentation
    • pink eyes   (MGI Ref ID J:13138)
  • pigmentation phenotype
  • decreased eye pigmentation
    • pink eyes   (MGI Ref ID J:13138)
  • diluted coat color
    • pale agouti   (MGI Ref ID J:13138)
  • integument phenotype
  • diluted coat color
    • pale agouti   (MGI Ref ID J:13138)

Bloc1s6pa/Bloc1s6pa

        Background Not Specified
  • other phenotype
  • maternal effect
    • homozygotes from dams fed a diet high in manganese during pregnancy do not display ataxia or the inability to orient in water   (MGI Ref ID J:5680)

Fbn1Tsk/Fbn1+

        B10.D2/(58N)Sn
  • skeleton phenotype
  • abnormal skeleton morphology
    • excessive growth of connective tissue and skeleton   (MGI Ref ID J:5629)
    • increase in skeletal size, however body weight is not increased   (MGI Ref ID J:5629)
    • abnormal cartilage morphology
      • increase in growth of cartilage   (MGI Ref ID J:5629)
      • longer length of the ear cartilage   (MGI Ref ID J:5629)
      • abnormal costal cartilage morphology
        • costal cartilages are elongated and more bowed than normal   (MGI Ref ID J:5629)
      • abnormal tracheal cartilage morphology
        • longer length of the fourth tracheal ring   (MGI Ref ID J:5629)
    • abnormal pelvic girdle bone morphology
      • pelvic bone is about 10% larger   (MGI Ref ID J:5629)
    • abnormal tendon morphology
      • small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath   (MGI Ref ID J:5629)
      • in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen   (MGI Ref ID J:5629)
    • enlarged cranium
      • longer skull   (MGI Ref ID J:5629)
    • enlarged lumbar vertebrae
      • enlarged in both length and width   (MGI Ref ID J:5629)
    • increased length of long bones
      • long bones and girdles are about 5% larger   (MGI Ref ID J:5629)
    • long mandible
      • longer and wider mandible   (MGI Ref ID J:5629)
    • long ribs
      • longer ribs   (MGI Ref ID J:5629)
  • cardiovascular system phenotype
  • dilated heart atrium   (MGI Ref ID J:5629)
  • dilated heart right ventricle
    • enlarged but not as much as the auricles   (MGI Ref ID J:5629)
  • enlarged heart   (MGI Ref ID J:5629)
    • cardiac hypertrophy   (MGI Ref ID J:32931)
  • respiratory system phenotype
  • abnormal lung morphology
    • lungs become abnormally distended in enlarged thorax   (MGI Ref ID J:5629)
    • emphysema
      • vesicular emphysema   (MGI Ref ID J:5629)
  • abnormal tracheal cartilage morphology
    • longer length of the fourth tracheal ring   (MGI Ref ID J:5629)
  • muscle phenotype
  • abnormal tendon morphology
    • small tendons with hyperplasia of tendon sheaths or with accumulation of fluid within the sheath   (MGI Ref ID J:5629)
    • in older mice, some tendons show degenerative changes with increased cellularity and decreased amount of collagen   (MGI Ref ID J:5629)
  • behavior/neurological phenotype
  • hunched posture
    • develop a pronounced hump in the shoulder region and hunched posture with age   (MGI Ref ID J:5629)
  • craniofacial phenotype
  • enlarged cranium
    • longer skull   (MGI Ref ID J:5629)
  • long mandible
    • longer and wider mandible   (MGI Ref ID J:5629)
  • growth/size/body phenotype
  • enlarged thoracic cavity
    • enlarged thorax causing distension of the thoracic viscera   (MGI Ref ID J:5629)
  • integument phenotype
  • abnormal hypodermis morphology
    • hyperplasia of the subcutaneous loose connective tissue   (MGI Ref ID J:5629)
    • in loose connective tissue, exhibit large accumulations of microfibrils in the intercellular space   (MGI Ref ID J:5629)
    • hypodermis is more lamellar   (MGI Ref ID J:6273)
    • fascicles of unusually thin collagen fibrils are found in scattered areas of the hypodermis   (MGI Ref ID J:6273)
    • thick hypodermis
      • hypodermis is substantially thicker   (MGI Ref ID J:6273)
  • abnormal skin morphology   (MGI Ref ID J:6273)
    • abnormal dermal layer morphology
      • dermis fibroblasts often contain greatly distended rough endoplasmic reticulum cisternae   (MGI Ref ID J:6273)
      • collagen fibrils within the fascicles of the dermis are less ordered and the fascicles are thinner and more closely packed and appear to bend and twist more along their course   (MGI Ref ID J:6273)
      • abnormal dermis papillary layer morphology
        • fibrous organization of collagen fibrils is not distinctly visible in the hyalinized areas of the superficial dermis   (MGI Ref ID J:6273)
      • thick dermal layer
        • reticular dermis of skin is consistently thicker and often more cellular than that of wild-type   (MGI Ref ID J:6273)
    • abnormal skin condition   (MGI Ref ID J:27521)
    • tight skin
      • caused by hyperplasia of subcutaneous loose connective tissue   (MGI Ref ID J:27521)
      • skin is firmly bound to subcutaneous and deep muscular tissue   (MGI Ref ID J:32931)
      • skin lacks normal pliability and elasticity   (MGI Ref ID J:32931)
      • skin tightness is not seen at birth but develops during the first postnatal week   (MGI Ref ID J:5629)

Fbn1Tsk/Fbn1Tsk

        B10.D2/(58N)Sn
  • mortality/aging
  • complete embryonic lethality between implantation and somite formation
    • die at 7-8 days of gestation   (MGI Ref ID J:5629)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

a/a Bloc1s6pa/Bloc1s6pa

        involves: C57BL/6J
  • pigmentation phenotype
  • abnormal retinal melanin granule morphology
    • number of granules in the retina is greatly reduced   (MGI Ref ID J:5346)
    • size of granules is diminished   (MGI Ref ID J:5346)
  • vision/eye phenotype
  • abnormal retinal melanin granule morphology
    • number of granules in the retina is greatly reduced   (MGI Ref ID J:5346)
    • size of granules is diminished   (MGI Ref ID J:5346)
View Research Applications

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

Bloc1s6pa related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects
      platelet storage pool deficiency

Internal/Organ Research
Kidney Defects
      lysosomal enzyme abnormalities
Lung Defects
      emphysema

Neurobiology Research
Vestibular Defects

Sensorineural Research
Vestibular Defects

Fbn1Tsk related

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Defects in Extracellular Matrix Molecules

Internal/Organ Research
Lung Defects
      emphysema

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Bloc1s6pa
Allele Name pallid
Allele Type Spontaneous
Common Name(s) Pldnpa; pa;
Strain of Originwild
Gene Symbol and Name Bloc1s6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Chromosome 2
Gene Common Name(s) BLOC-1; BLOC-1 subunit; BLOS6; HPS9; PA; PALLID; PLDN; Pldn; pa; pallid; pallidin;
General Note Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:7946)
Molecular Note The C to T substitution at nucleotide 787 introduces a premature stop codon in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. [MGI Ref ID J:2185] [MGI Ref ID J:64907]
 
Allele Symbol Fbn1Tsk
Allele Name tight skin
Allele Type Spontaneous
Common Name(s) TSK;
Strain of OriginB10.D2/(58N)Sn
Gene Symbol and Name Fbn1, fibrillin 1
Chromosome 2
Gene Common Name(s) ACMICD; AI536462; ECTOL1; FBN; Fib-1; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; Tsk; WMS; WMS2; expressed sequence AI536462; tight skin;
General Note Genbank ID for this allele: AF007248
Molecular Note This allele harbors a 30 to 40kb genomic tandem duplication within the Fbn1 gene that results in a larger than normal in-frame transcript produced at normal levels. [MGI Ref ID J:32931] [MGI Ref ID J:45733] [MGI Ref ID J:55886]

Genotyping

Genotyping Information

Genotyping Protocols

Fbn1Tsk, Standard PCR
Pldnpa, Pyrosequencing


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Shen Y; Ichino M; Nakazawa M; Ikejima T; Kojima Y; Okuda K; Minami M. 2005. Therapeutic effect of CpG-enriched plasmid administration on the tight-skin mouse model of scleroderma. J Autoimmun 24(3):183-90. [PubMed: 15848040]  [MGI Ref ID J:109834]

Shen Y; Ichino M; Nakazawa M; Minami M. 2005. CpG oligodeoxynucleotides prevent the development of scleroderma-like syndrome in tight-skin mice by stimulating a Th1 immune response. J Invest Dermatol 124(6):1141-8. [PubMed: 15955088]  [MGI Ref ID J:98858]

Additional References

Gwynn B; Korsgren C; Cohen CM; Ciciotte SL; Peters LL. 1997. The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Genomics 42(3):532-5. [PubMed: 9205130]  [MGI Ref ID J:38773]

Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702]  [MGI Ref ID J:89392]

Kodera T; McGaha TL; Phelps R; Paul WE; Bona CA. 2002. Disrupting the IL-4 gene rescues mice homozygous for the tight-skin mutation from embryonic death and diminishes TGF-beta production by fibroblasts. Proc Natl Acad Sci U S A 99(6):3800-5. [PubMed: 11891315]  [MGI Ref ID J:75471]

Tsuji-Yamada J; Nakazawa M; Takahashi K; Iijima K; Hattori S; Okuda K; Minami M; Ikezawa Z; Sasaki T. 2001. Effect of IL-12 encoding plasmid administration on tight-skin mouse. Biochem Biophys Res Commun 280(3):707-12. [PubMed: 11162578]  [MGI Ref ID J:67087]

White RA; Peters LL; Adkison LR; Korsgren C; Cohen CM; Lux SE. 1992. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nat Genet 2(1):80-3. [PubMed: 1284644]  [MGI Ref ID J:2185]

Bloc1s6pa related

Akiyama K; Chen C; Wang D; Xu X; Qu C; Yamaza T; Cai T; Chen W; Sun L; Shi S. 2012. Mesenchymal-stem-cell-induced immunoregulation involves FAS-ligand-/FAS-mediated T cell apoptosis. Cell Stem Cell 10(5):544-55. [PubMed: 22542159]  [MGI Ref ID J:185809]

Alexander JJ; Jacob A; Cunningham P; Hensley L; Quigg RJ. 2008. TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1. Neurochem Int 52(3):447-56. [PubMed: 17884256]  [MGI Ref ID J:140283]

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Bayle J; Fitch J; Jacobsen K; Kumar R; Lafyatis R; Lemaire R. 2008. Increased expression of Wnt2 and SFRP4 in Tsk mouse skin: role of Wnt signaling in altered dermal fibrillin deposition and systemic sclerosis. J Invest Dermatol 128(4):871-81. [PubMed: 17943183]  [MGI Ref ID J:135507]

Bodmer WF. 1961. Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse Heredity 16:485-95.  [MGI Ref ID J:2]

Bossi G; Booth S; Clark R; Davis EG; Liesner R; Richards K; Starcevic M; Stinchcombe J; Trambas C; Dell'Angelica EC; Griffiths GM. 2005. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic 6(3):243-51. [PubMed: 15702992]  [MGI Ref ID J:105404]

Chan WT; Sherer NM; Uchil PD; Novak EK; Swank RT; Mothes W. 2008. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE 3(7):e2713. [PubMed: 18629000]  [MGI Ref ID J:139279]

Deol MS. 1976. Deficiencies of the inner ear in the mouse and their origin Colloq Int (Collques Internationaux) C.N.R.S. 266:163-171.  [MGI Ref ID J:136112]

Dimitriu-Bona A; Fillit H. 1993. Studies of the cellular immune response to heparan sulfate proteoglycan in the tight skin mouse. Cell Immunol 150(2):321-32. [PubMed: 8370075]  [MGI Ref ID J:14526]

Erway LC; Fraser AS; Hurley LS. 1971. Prevention of congenital otolith defect in pallid mutant mice by manganese supplementation. Genetics 67(1):97-108. [PubMed: 5559839]  [MGI Ref ID J:5215]

Falcon-Perez JM; Dell'Angelica EC. 2002. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. Pigment Cell Res 15(2):82-6. [PubMed: 11936273]  [MGI Ref ID J:76190]

Falcon-Perez JM; Starcevic M; Gautam R; Dell'Angelica EC. 2002. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 277(31):28191-9. [PubMed: 12019270]  [MGI Ref ID J:88019]

Gardi C; Cavarra E; Calzoni P; Marcolongo P; de Santi M; Martorana PA; Lungarella G. 1994. Neutrophil lysosomal dysfunctions in mutant C57 Bl/6J mice: interstrain variations in content of lysosomal elastase, cathepsin G and their inhibitors. Biochem J 299(Pt 1):237-45. [PubMed: 8166647]  [MGI Ref ID J:17583]

Gokhale A; Larimore J; Werner E; So L; Moreno-De-Luca A; Lese-Martin C; Lupashin VV; Smith Y; Faundez V. 2012. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J Neurosci 32(11):3697-711. [PubMed: 22423091]  [MGI Ref ID J:183082]

Graff RJ; Simmons D; Meyer J; Martin-Morgan D; Kurtz M. 1986. Abnormal bone production associated with mutant mouse genes pa and we. J Hered 77(2):109-13. [PubMed: 3711636]  [MGI Ref ID J:8296]

Griesenbach U; Smith SN; Farley R; Singh C; Alton EW. 2008. Validation of nasal potential difference measurements in gut-corrected CF knockout mice. Am J Respir Cell Mol Biol 39(4):490-6. [PubMed: 18458238]  [MGI Ref ID J:154280]

Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048]  [MGI Ref ID J:5346]

Huang L; Kuo YM; Gitschier J. 1999. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet 23(3):329-32. [PubMed: 10610180]  [MGI Ref ID J:64907]

Hurley LS. 1976. Interaction of genes and metals in development. Fed Proc 35(11):2271-5. [PubMed: 133823]  [MGI Ref ID J:5680]

Ito S; Bartolak-Suki E; Shipley JM; Parameswaran H; Majumdar A; Suki B. 2006. Early emphysema in the tight skin and pallid mice: roles of microfibril-associated glycoproteins, collagen, and mechanical forces. Am J Respir Cell Mol Biol 34(6):688-94. [PubMed: 16439805]  [MGI Ref ID J:122617]

Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702]  [MGI Ref ID J:89392]

Kakizoe E; Shiota N; Tanabe Y; Shimoura K; Kobayashi Y; Okunishi H. 2001. Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice. J Invest Dermatol 116(1):118-23. [PubMed: 11168806]  [MGI Ref ID J:68449]

Keil M; Lungarella G; Cavarra E; van Even P; Martorana PA. 1996. A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 BL/6J mutants. Lab Invest 74(2):353-62. [PubMed: 8780155]  [MGI Ref ID J:31735]

Larimore J; Tornieri K; Ryder PV; Gokhale A; Zlatic SA; Craige B; Lee JD; Talbot K; Pare JF; Smith Y; Faundez V. 2011. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell 22(24):4854-67. [PubMed: 21998198]  [MGI Ref ID J:187545]

Lemaire R; Farina G; Bayle J; Dimarzio M; Pendergrass SA; Milano A; Whitfield ML; Lafyatis R. 2010. Antagonistic effect of the matricellular signaling protein CCN3 on TGF-beta- and Wnt-mediated fibrillinogenesis in systemic sclerosis and Marfan syndrome. J Invest Dermatol 130(6):1514-23. [PubMed: 20182440]  [MGI Ref ID J:160094]

Lemaire R; Korn JH; Schiemann WP; Lafyatis R. 2004. Fibulin-2 and fibulin-5 alterations in tsk mice associated with disorganized hypodermal elastic fibers and skin tethering. J Invest Dermatol 123(6):1063-9. [PubMed: 15610515]  [MGI Ref ID J:94185]

Lyon MF. 1953. Absence of otoliths in the mouse: An effect of the pallid mutant J Genet 51:638-50.  [MGI Ref ID J:19343]

Mantegazza AR; Guttentag SH; El-Benna J; Sasai M; Iwasaki A; Shen H; Laufer TM; Marks MS. 2012. Adaptor protein-3 in dendritic cells facilitates phagosomal toll-like receptor signaling and antigen presentation to CD4(+) T cells. Immunity 36(5):782-94. [PubMed: 22560444]  [MGI Ref ID J:187323]

Marie I; Beny JL. 2002. Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1. J Invest Dermatol 119(6):1379-87. [PubMed: 12485443]  [MGI Ref ID J:81020]

Martorana PA; Brand T; Gardi C; van Even P; de Santi MM; Calzoni P; Marcolongo P; Lungarella G. 1993. The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. Lab Invest 68(2):233-41. [PubMed: 8441253]  [MGI Ref ID J:4098]

Matsushita T; Fujimoto M; Hasegawa M; Matsushita Y; Komura K; Ogawa F; Watanabe R; Takehara K; Sato S. 2007. BAFF antagonist attenuates the development of skin fibrosis in tight-skin mice. J Invest Dermatol 127(12):2772-80. [PubMed: 17581616]  [MGI Ref ID J:127329]

McGaha T; Saito S; Phelps RG; Gordon R; Noben-Trauth N; Paul WE; Bona C. 2001. Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes. J Invest Dermatol 116(1):136-43. [PubMed: 11168809]  [MGI Ref ID J:68448]

McGarry MP; Borchers M; Novak EK; Lee NA; Ohtake PJ; Lee JJ; Swank RT. 2002. Pulmonary pathologies in pallid mice result from nonhematopoietic defects. Exp Mol Pathol 72(3):213-20. [PubMed: 12009785]  [MGI Ref ID J:88021]

McGarry MP; Reddington M; Novak EK; Swank RT. 1999. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med 220(3):162-8. [PubMed: 10193444]  [MGI Ref ID J:53228]

Meng R; Wang Y; Yao Y; Zhang Z; Harper DC; Heijnen HF; Sitaram A; Li W; Raposo G; Weiss MJ; Poncz M; Marks MS. 2012. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. Blood 120(2):404-14. [PubMed: 22611153]  [MGI Ref ID J:189024]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Nazarian R; Falcon-Perez JM; Dell'Angelica EC. 2003. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A 100(15):8770-5. [PubMed: 12847290]  [MGI Ref ID J:99881]

Newell-Litwa K; Chintala S; Jenkins S; Pare JF; McGaha L; Smith Y; Faundez V. 2010. Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus. J Neurosci 30(3):820-31. [PubMed: 20089890]  [MGI Ref ID J:157701]

Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML. 2002. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119(5):1156-64. [PubMed: 12445206]  [MGI Ref ID J:80751]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

Novak EK; McGarry MP; Swank RT. 1985. Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. Blood 66(5):1196-201. [PubMed: 3902123]  [MGI Ref ID J:8056]

Novak EK; Swank RT. 1979. Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics 92(1):189-204. [PubMed: 115747]  [MGI Ref ID J:6219]

Ong CJ; Ip S; Teh SJ; Wong C; Jirik FR; Grusby MJ; Teh HS. 1999. A role for T helper 2 cells in mediating skin fibrosis in tight-skin mice. Cell Immunol 196(1):60-8. [PubMed: 10486156]  [MGI Ref ID J:57957]

Orn A; Hakansson EM; Gidlund M; Ramstedt U; Axberg I; Wigzell H; Lundin LG. 1982. Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand J Immunol 15(3):305-10. [PubMed: 7089489]  [MGI Ref ID J:6801]

Phelps RG; Daian C; Shibata S; Fleischmajer R; Bona CA. 1993. Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice. J Autoimmun 6(6):701-18. [PubMed: 8155252]  [MGI Ref ID J:16435]

Roberts E. 1931. A new mutation in the house mouse (Mus musculus). Science 74:569.  [MGI Ref ID J:13138]

Salazar G; Craige B; Styers ML; Newell-Litwa KA; Doucette MM; Wainer BH; Falcon-Perez JM; Dell'Angelica EC; Peden AA; Werner E; Faundez V. 2006. BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell 17(9):4014-26. [PubMed: 16760431]  [MGI Ref ID J:114481]

Sgonc R; Dietrich H; Sieberer C; Wick G; Christner PJ; Jimenez SA. 1999. Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice. Arthritis Rheum 42(3):581-4. [PubMed: 10088787]  [MGI Ref ID J:55591]

Shrader RE; Erway LC; Hurley LS. 1973. Mucopolysaccharide synthesis in the developing inner ear of manganese-deficient and pallid mutant mice. Teratology 8(3):257-66. [PubMed: 4272079]  [MGI Ref ID J:5402]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Sitaram A; Dennis MK; Chaudhuri R; De Jesus-Rojas W; Tenza D; Setty SR; Wood CS; Sviderskaya EV; Bennett DC; Raposo G; Bonifacino JS; Marks MS. 2012. Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell 23(16):3178-92. [PubMed: 22718909]  [MGI Ref ID J:199702]

Sullo N; Roviezzo F; Matteis M; Spaziano G; Del Gaudio S; Lombardi A; Lucattelli M; Polverino F; Lungarella G; Cirino G; Rossi F; D'Agostino B. 2013. Skeletal muscle oxidative metabolism in an animal model of pulmonary emphysema: formoterol and skeletal muscle dysfunction. Am J Respir Cell Mol Biol 48(2):198-203. [PubMed: 23144332]  [MGI Ref ID J:205093]

Swank RT; Novak EK; McGarry MP; Rusiniak ME; Feng L. 1998. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 11(2):60-80. [PubMed: 9585243]  [MGI Ref ID J:88018]

Swank RT; Novak EK; McGarry MP; Zhang Y; Li W; Zhang Q; Feng L. 2000. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res 13 Suppl 8:59-67. [PubMed: 11041359]  [MGI Ref ID J:103794]

Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584]  [MGI Ref ID J:29151]

Trune DR; Lim DJ. 1983. A morphometric study of the pallid mutant mouse inner ear. Am J Otolaryngol 4(4):261-72. [PubMed: 6605096]  [MGI Ref ID J:124152]

Trune DR; Lim DJ. 1983. The behavior and vestibular nuclear morphology of otoconia-deficient pallid mutant mice. J Neurogenet 1(1):53-69. [PubMed: 6681441]  [MGI Ref ID J:7946]

Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W. 2013. Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism. J Invest Dermatol 133(7):1834-40. [PubMed: 23364476]  [MGI Ref ID J:198009]

Weihrauch D; Xu H; Shi Y; Wang J; Brien J; Jones DW; Kaul S; Komorowski RA; Csuka ME; Oldham KT; Pritchard KA. 2007. Effects of D-4F on vasodilation, oxidative stress, angiostatin, myocardial inflammation, and angiogenic potential in tight-skin mice. Am J Physiol Heart Circ Physiol 293(3):H1432-41. [PubMed: 17496220]  [MGI Ref ID J:126106]

White RA; Peters LL; Adkison LR; Korsgren C; Cohen CM; Lux SE. 1992. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. Nat Genet 2(1):80-3. [PubMed: 1284644]  [MGI Ref ID J:2185]

Xie T; Nguyen T; Hupe M; Wei ML. 2009. Multidrug resistance decreases with mutations of melanosomal regulatory genes. Cancer Res 69(3):992-9. [PubMed: 19155314]  [MGI Ref ID J:144973]

Yang Q; He X; Yang L; Zhou Z; Cullinane AR; Wei A; Zhang Z; Hao Z; Zhang A; He M; Feng Y; Gao X; Gahl WA; Huizing M; Li W. 2012. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic 13(8):1160-9. [PubMed: 22554196]  [MGI Ref ID J:192646]

Yoshida M; Sakiyama S; Kenzaki K; Toba H; Uyama K; Takehisa M; Kondo K; Tangoku A. 2009. Functional evaluation of pallid mice with genetic emphysema. Lab Invest 89(7):760-8. [PubMed: 19381131]  [MGI Ref ID J:149897]

de Santi MM; Martorana PA; Cavarra E; Lungarella G. 1995. Pallid mice with genetic emphysema. Neutrophil elastase burden and elastin loss occur without alteration in the bronchoalveolar lavage cell population. Lab Invest 73(1):40-7. [PubMed: 7603039]  [MGI Ref ID J:27224]

Fbn1Tsk related

Akita M; Lee SH; Kaneko K. 1992. Electron microscopic observations of elastic fibres in the lung and aorta of tight-skin and beta-aminopropionitrile-fed mice. Histol Histopathol 7(1):39-45. [PubMed: 1576433]  [MGI Ref ID J:1326]

Akiyama K; Chen C; Wang D; Xu X; Qu C; Yamaza T; Cai T; Chen W; Sun L; Shi S. 2012. Mesenchymal-stem-cell-induced immunoregulation involves FAS-ligand-/FAS-mediated T cell apoptosis. Cell Stem Cell 10(5):544-55. [PubMed: 22542159]  [MGI Ref ID J:185809]

Alexander JJ; Jacob A; Cunningham P; Hensley L; Quigg RJ. 2008. TNF is a key mediator of septic encephalopathy acting through its receptor, TNF receptor-1. Neurochem Int 52(3):447-56. [PubMed: 17884256]  [MGI Ref ID J:140283]

Asano N; Fujimoto M; Yazawa N; Shirasawa S; Hasegawa M; Okochi H; Tamaki K; Tedder TF; Sato S. 2004. B Lymphocyte signaling established by the CD19/CD22 loop regulates autoimmunity in the tight-skin mouse. Am J Pathol 165(2):641-50. [PubMed: 15277237]  [MGI Ref ID J:91521]

Bashey RI; Philips N; Insinga F; Jimenez SA. 1993. Increased collagen synthesis and increased content of type VI collagen in myocardium of tight skin mice. Cardiovasc Res 27(6):1061-5. [PubMed: 8221765]  [MGI Ref ID J:17160]

Baxter RM; Crowell TP; McCrann ME; Frew EM; Gardner H. 2005. Analysis of the tight skin (Tsk1/+) mouse as a model for testing antifibrotic agents. Lab Invest 85(10):1199-209. [PubMed: 16127425]  [MGI Ref ID J:103677]

Bayle J; Fitch J; Jacobsen K; Kumar R; Lafyatis R; Lemaire R. 2008. Increased expression of Wnt2 and SFRP4 in Tsk mouse skin: role of Wnt signaling in altered dermal fibrillin deposition and systemic sclerosis. J Invest Dermatol 128(4):871-81. [PubMed: 17943183]  [MGI Ref ID J:135507]

Bocchieri MH; Christner PJ; Henriksen PD; Jimenez SA. 1993. Immunological characterization of (tight skin/NZB)F1 hybrid mice with connective tissue and autoimmune features resembling human systemic sclerosis. J Autoimmun 6(3):337-51. [PubMed: 8397715]  [MGI Ref ID J:13260]

Bona CA; Murai C; Casares S; Kasturi K; Nishimura H; Honjo T; Matsuda F. 1997. Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse. DNA Res 4(4):267-71. [PubMed: 9405934]  [MGI Ref ID J:45733]

Calvi C; Podowski M; Lopez-Mercado A; Metzger S; Misono K; Malinina A; Dikeman D; Poonyagariyon H; Ynalvez L; Derakhshandeh R; Le A; Merchant M; Schwall R; Neptune ER. 2013. Hepatocyte growth factor, a determinant of airspace homeostasis in the murine lung. PLoS Genet 9(2):e1003228. [PubMed: 23459311]  [MGI Ref ID J:195194]

DeLustro FA; Mackel AM; LeRoy EC. 1983. Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse. Cell Immunol 81(1):175-9. [PubMed: 6604585]  [MGI Ref ID J:7185]

Dimitriu-Bona A; Fillit H. 1993. Studies of the cellular immune response to heparan sulfate proteoglycan in the tight skin mouse. Cell Immunol 150(2):321-32. [PubMed: 8370075]  [MGI Ref ID J:14526]

Dodig TD; Mack KT; Cassarino DF; Clark SH. 2001. Development of the tight-skin phenotype in immune-deficient mice. Arthritis Rheum 44(3):723-7. [PubMed: 11263788]  [MGI Ref ID J:112962]

Everett ET; Pablos JL; Harley RA; LeRoy EC; Norris JS. 1995. The role of mast cells in the development of skin fibrosis in tight-skin mutant mice. Comp Biochem Physiol A Physiol 110(2):159-65. [PubMed: 7704626]  [MGI Ref ID J:24076]

Frondoza C; Jones L; Rose NR; Hatakeyama A; Phelps R; Bona C. 1996. Silicone does not potentiate development of the scleroderma-like syndrome in tight skin (TSK/+) mice. J Autoimmun 9(4):473-83. [PubMed: 8864822]  [MGI Ref ID J:35588]

Gardi C; Cavarra E; Calzoni P; Marcolongo P; de Santi M; Martorana PA; Lungarella G. 1994. Neutrophil lysosomal dysfunctions in mutant C57 Bl/6J mice: interstrain variations in content of lysosomal elastase, cathepsin G and their inhibitors. Biochem J 299(Pt 1):237-45. [PubMed: 8166647]  [MGI Ref ID J:17583]

Gardi C; Martorana PA; Calzoni P; Cavarra E; Marcolongo P; de Santi MM; van Even P; Lungarella G. 1994. Cardiac collagen changes during the development of right ventricular hypertrophy in tight-skin mice with emphysema. Exp Mol Pathol 60(2):100-7. [PubMed: 8070538]  [MGI Ref ID J:20724]

Gardi C; Martorana PA; Calzoni P; van Even P; de Santi MM; Cavarra E; Lungarella G. 1992. Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema. Exp Mol Pathol 56(2):163-72. [PubMed: 1587342]  [MGI Ref ID J:3934]

Gardi C; Martorana PA; van Even P; de Santi MM; Lungarella G. 1990. Serum antielastase deficiency in tight-skin mice with genetic emphysema. Exp Mol Pathol 52(1):46-53. [PubMed: 2307213]  [MGI Ref ID J:150253]

Gayraud B; Keene DR; Sakai LY; Ramirez F. 2000. New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse. J Cell Biol 150(3):667-80. [PubMed: 10931876]  [MGI Ref ID J:63844]

Goldstein C; Liaw P; Jimenez SA; Buchberg AM; Siracusa LD. 1994. Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. Mamm Genome 5(11):696-700. [PubMed: 7873879]  [MGI Ref ID J:21512]

Granchelli JA; Pollina C; Hudecki MS. 1995. Duchenne-like myopathy in double-mutant mdx mice expressing exaggerated mast cell activity. J Neurol Sci 131(1):1-7. [PubMed: 7561939]  [MGI Ref ID J:26738]

Green MC; Sweet HO. 1973. Tight skin (Tsk) Mouse News Lett 48:34.  [MGI Ref ID J:27521]

Green MC; Sweet HO; Bunker LE. 1976. Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton. Am J Pathol 82(3):493-512. [PubMed: 176891]  [MGI Ref ID J:5629]

Griesenbach U; Smith SN; Farley R; Singh C; Alton EW. 2008. Validation of nasal potential difference measurements in gut-corrected CF knockout mice. Am J Respir Cell Mol Biol 39(4):490-6. [PubMed: 18458238]  [MGI Ref ID J:154280]

Hasegawa M; Hamaguchi Y; Yanaba K; Bouaziz JD; Uchida J; Fujimoto M; Matsushita T; Matsushita Y; Horikawa M; Komura K; Takehara K; Sato S; Tedder TF. 2006. B-lymphocyte depletion reduces skin fibrosis and autoimmunity in the tight-skin mouse model for systemic sclerosis. Am J Pathol 169(3):954-66. [PubMed: 16936269]  [MGI Ref ID J:112355]

Honda N; Jinnin M; Kira-Etoh T; Makino K; Kajihara I; Makino T; Fukushima S; Inoue Y; Okamoto Y; Hasegawa M; Fujimoto M; Ihn H. 2013. miR-150 down-regulation contributes to the constitutive type I collagen overexpression in scleroderma dermal fibroblasts via the induction of integrin beta3. Am J Pathol 182(1):206-16. [PubMed: 23159943]  [MGI Ref ID J:192341]

Ito S; Bartolak-Suki E; Shipley JM; Parameswaran H; Majumdar A; Suki B. 2006. Early emphysema in the tight skin and pallid mice: roles of microfibril-associated glycoproteins, collagen, and mechanical forces. Am J Respir Cell Mol Biol 34(6):688-94. [PubMed: 16439805]  [MGI Ref ID J:122617]

Jimenez SA; Williams CJ; Myers JC; Bashey RI. 1986. Increased collagen biosynthesis and increased expression of type I and type III procollagen genes in tight skin (TSK) mouse fibroblasts. J Biol Chem 261(2):657-62. [PubMed: 2416757]  [MGI Ref ID J:8140]

Kakizoe E; Shiota N; Tanabe Y; Shimoura K; Kobayashi Y; Okunishi H. 2001. Isoform-selective upregulation of mast cell chymase in the development of skin fibrosis in scleroderma model mice. J Invest Dermatol 116(1):118-23. [PubMed: 11168806]  [MGI Ref ID J:68449]

Kasturi KN; Daian C; Saitoh Y; Muryoi T; Bona CA. 1993. Tight-skin mouse autoantibody repertoire: analysis of VH and VK gene usage. Mol Immunol 30(11):969-78. [PubMed: 7688852]  [MGI Ref ID J:14166]

Kasturi KN; Hatakeyama A; Murai C; Gordon R; Phelps RG; Bona CA. 1997. B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene J Autoimmun 10(6):505-17. [PubMed: 9451590]  [MGI Ref ID J:45060]

Kasturi KN; Shibata S; Muryoi T; Bona CA. 1994. Tight-skin mouse an experimental model for scleroderma. Int Rev Immunol 11(3):253-71. [PubMed: 7523551]  [MGI Ref ID J:21987]

Kasturi KN; Yio XY; Bona CA. 1994. Molecular characterization of J558 genes encoding tight-skin mouse autoantibodies: identical heavy-chain variable genes code for antibodies with different specificities. Proc Natl Acad Sci U S A 91(17):8067-71. [PubMed: 8058758]  [MGI Ref ID J:19901]

Keil M; Lungarella G; Cavarra E; van Even P; Martorana PA. 1996. A scanning electron microscopic investigation of genetic emphysema in tight-skin, pallid, and beige mice, three different C57 BL/6J mutants. Lab Invest 74(2):353-62. [PubMed: 8780155]  [MGI Ref ID J:31735]

Kielty CM; Raghunath M; Siracusa LD; Sherratt MJ; Peters R; Shuttleworth CA ; Jimenez SA. 1998. The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils. J Cell Biol 140(5):1159-66. [PubMed: 9490728]  [MGI Ref ID J:46405]

Kiso Y; McBey BA; Croy BA. 1992. Granulated metrial gland cells in the pregnant uterus of mice expressing the collagen mutation tight-skin (Tsk/+). Cell Tissue Res 268(2):393-6. [PubMed: 1617705]  [MGI Ref ID J:1377]

Kodera T; McGaha TL; Phelps R; Paul WE; Bona CA. 2002. Disrupting the IL-4 gene rescues mice homozygous for the tight-skin mutation from embryonic death and diminishes TGF-beta production by fibroblasts. Proc Natl Acad Sci U S A 99(6):3800-5. [PubMed: 11891315]  [MGI Ref ID J:75471]

Lemaire R; Farina G; Bayle J; Dimarzio M; Pendergrass SA; Milano A; Whitfield ML; Lafyatis R. 2010. Antagonistic effect of the matricellular signaling protein CCN3 on TGF-beta- and Wnt-mediated fibrillinogenesis in systemic sclerosis and Marfan syndrome. J Invest Dermatol 130(6):1514-23. [PubMed: 20182440]  [MGI Ref ID J:160094]

Lemaire R; Korn JH; Schiemann WP; Lafyatis R. 2004. Fibulin-2 and fibulin-5 alterations in tsk mice associated with disorganized hypodermal elastic fibers and skin tethering. J Invest Dermatol 123(6):1063-9. [PubMed: 15610515]  [MGI Ref ID J:94185]

Levi-Schaffer F; Nagler A; Slavin S; Knopov V; Pines M. 1996. Inhibition of collagen synthesis and changes in skin morphology in murine graft-versus-host disease and tight skin mice: effect of halofuginone. J Invest Dermatol 106(1):84-8. [PubMed: 8592087]  [MGI Ref ID J:31146]

Longhurst PA; Eika B; Leggett RE; Levin RM. 1992. Urinary bladder function in the tight-skin mouse. J Urol 148(5):1611-4. [PubMed: 1433576]  [MGI Ref ID J:3616]

Marie I; Beny JL. 2002. Endothelial dysfunction in murine model of systemic sclerosis: tight-skin mice 1. J Invest Dermatol 119(6):1379-87. [PubMed: 12485443]  [MGI Ref ID J:81020]

Martorana PA; van Even P; Gardi C; Lungarella G. 1989. A 16-month study of the development of genetic emphysema in tight-skin mice. Am Rev Respir Dis 139(1):226-32. [PubMed: 2912343]  [MGI Ref ID J:152520]

Matsushita T; Fujimoto M; Hasegawa M; Matsushita Y; Komura K; Ogawa F; Watanabe R; Takehara K; Sato S. 2007. BAFF antagonist attenuates the development of skin fibrosis in tight-skin mice. J Invest Dermatol 127(12):2772-80. [PubMed: 17581616]  [MGI Ref ID J:127329]

Matsushita Y; Hasegawa M; Matsushita T; Fujimoto M; Horikawa M; Fujita T; Kawasuji A; Ogawa F; Steeber DA; Tedder TF; Takehara K; Sato S. 2007. Intercellular adhesion molecule-1 deficiency attenuates the development of skin fibrosis in tight-skin mice. J Immunol 179(1):698-707. [PubMed: 17579093]  [MGI Ref ID J:143152]

McGaha T; Saito S; Phelps RG; Gordon R; Noben-Trauth N; Paul WE; Bona C. 2001. Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes. J Invest Dermatol 116(1):136-43. [PubMed: 11168809]  [MGI Ref ID J:68448]

Menon RP; Menon MR; Shi-Wen X; Renzoni E; Bou-Gharios G; Black CM; Abraham DJ. 2006. Hammerhead ribozyme-mediated silencing of the mutant fibrillin-1 of tight skin mouse: insight into the functional role of mutant fibrillin-1. Exp Cell Res 312(9):1463-74. [PubMed: 16488411]  [MGI Ref ID J:111492]

Menton DN; Hess RA. 1980. The ultrastructure of collagen in the dermis of tight-skin (Tsk) mutant mice. J Invest Dermatol 74(3):139-47. [PubMed: 7359004]  [MGI Ref ID J:6273]

Muryoi T; Andre-Schwartz J; Saitoh Y; Daian C; Hall B; Dimitriu-Bona A; Schwartz RS; Bona CA; Kasturi KN. 1992. Self-reactive repertoire of tight skin (TSK/+) mouse: immunochemical and molecular characterization of anti-cellular autoantibodies. Cell Immunol 144(1):43-54. [PubMed: 1382866]  [MGI Ref ID J:2646]

O'dell NL; Burlison SK; Starcher BC; Pennington CB. 1996. Morphological and biochemical studies of the elastic fibres in the craniomandibular joint articular disc of the tight-skin mouse. Arch Oral Biol 41(5):431-7. [PubMed: 8809305]  [MGI Ref ID J:34650]

Omens JH; Rockman HA; Covell JW. 1994. Passive ventricular mechanics in tight-skin mice. Am J Physiol 266(3 Pt 2):H1169-76. [PubMed: 8160820]  [MGI Ref ID J:17498]

Ong CJ; Ip S; Teh SJ; Wong C; Jirik FR; Grusby MJ; Teh HS. 1999. A role for T helper 2 cells in mediating skin fibrosis in tight-skin mice. Cell Immunol 196(1):60-8. [PubMed: 10486156]  [MGI Ref ID J:57957]

Ong VH; Evans LA; Shiwen X; Fisher IB; Rajkumar V; Abraham DJ; Black CM; Denton CP. 2003. Monocyte chemoattractant protein 3 as a mediator of fibrosis: Overexpression in systemic sclerosis and the type 1 tight-skin mouse. Arthritis Rheum 48(7):1979-91. [PubMed: 12847692]  [MGI Ref ID J:106169]

Pablos JL; Carreira PE; Serrano L; Del Castillo P; Gomez-Reino JJ. 1997. Apoptosis and proliferation of fibroblasts during postnatal skin development and scleroderma in the tight-skin mouse. J Histochem Cytochem 45(5):711-9. [PubMed: 9154158]  [MGI Ref ID J:40179]

Pablos JL; Everett ET; Harley R; LeRoy EC; Norris JS. 1995. Transforming growth factor-beta 1 and collagen gene expression during postnatal skin development and fibrosis in the tight-skin mouse. Lab Invest 72(6):670-8. [PubMed: 7783425]  [MGI Ref ID J:26096]

Phelps RG; Daian C; Shibata S; Fleischmajer R; Bona CA. 1993. Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice. J Autoimmun 6(6):701-18. [PubMed: 8155252]  [MGI Ref ID J:16435]

Philips N; Bashey RI; Jimenez SA. 1995. Increased alpha 1(I) procollagen gene expression in tight skin (TSK) mice myocardial fibroblasts is due to a reduced interaction of a negative regulatory sequence with AP-1 transcription factor. J Biol Chem 270(16):9313-21. [PubMed: 7721853]  [MGI Ref ID J:24523]

Podowski M; Calvi CL; Cheadle C; Tuder RM; Biswals S; Neptune ER. 2009. Complex integration of matrix, oxidative stress, and apoptosis in genetic emphysema. Am J Pathol 175(1):84-96. [PubMed: 19541933]  [MGI Ref ID J:149984]

Ross SC; Osborn TG; Dorner RW; Zuckner J. 1983. Glycosaminoglycan content in skin of the tight-skin mouse. Arthritis Rheum 26(5):653-7. [PubMed: 6847727]  [MGI Ref ID J:7057]

Rossi GA; Hunninghake GW; Gadek JE; Szapiel SV; Kawanami O; Ferrans VJ; Crystal RG. 1984. Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis. Am Rev Respir Dis 129(5):850-5. [PubMed: 6562869]  [MGI Ref ID J:15018]

Rossi GA; Hunninghake GW; Szapiel SV; Gadek JE; Fulmer JD; Kawanami O; Ferrans VJ; Crystal RG. 1980. The tight-skin mouse: an animal model of inherited emphysema. Bull Eur Physiopathol Respir 16 Suppl:157-66. [PubMed: 6971670]  [MGI Ref ID J:30961]

Saito E; Fujimoto M; Hasegawa M; Komura K; Hamaguchi Y; Kaburagi Y; Nagaoka T; Takehara K; Tedder TF; Sato S. 2002. CD19-dependent B lymphocyte signaling thresholds influence skin fibrosis and autoimmunity in the tight-skin mouse. J Clin Invest 109(11):1453-62. [PubMed: 12045259]  [MGI Ref ID J:76812]

Saito S; Nishimura H; Brumeanu TD; Casares S; Stan AC; Honjo T ; Bona CA. 1999. Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice. Mol Immunol 36(3):169-76. [PubMed: 10403482]  [MGI Ref ID J:55886]

Sgonc R; Dietrich H; Sieberer C; Wick G; Christner PJ; Jimenez SA. 1999. Lack of endothelial cell apoptosis in the dermis of tight skin 1 and tight skin 2 mice. Arthritis Rheum 42(3):581-4. [PubMed: 10088787]  [MGI Ref ID J:55591]

Shibata S; Muryoi T; Saitoh Y; Brumeanu TD; Bona CA; Kasturi KN. 1993. Immunochemical and molecular characterization of anti-RNA polymerase I autoantibodies produced by tight skin mouse. J Clin Invest 92(2):984-92. [PubMed: 8349828]  [MGI Ref ID J:14182]

Siracusa LD; McGrath R; Fisher JK; Jimenez SA. 1998. The mouse tight skin (Tsk) phenotype is not dependent on the presence of mature T and B lymphocytes. Mamm Genome 9(11):907-9. [PubMed: 9799844]  [MGI Ref ID J:50581]

Siracusa LD; McGrath R; Ma Q; Moskow JJ; Manne J; Christner PJ; Buchberg AM; Jimenez SA. 1996. A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Genome Res 6(4):300-13. [PubMed: 8723723]  [MGI Ref ID J:32931]

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]

Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584]  [MGI Ref ID J:29151]

Szapiel SV; Fulmer JD; Hunninghake GW; Elson NA; Kawanami O; Ferrans VJ; Crystal RG. 1981. Hereditary emphysema in the tight-skin (Tsk/+) mouse. Am Rev Respir Dis 123(6):680-5. [PubMed: 7271067]  [MGI Ref ID J:6566]

Tsuji-Yamada J; Nakazawa M; Takahashi K; Iijima K; Hattori S; Okuda K; Minami M; Ikezawa Z; Sasaki T. 2001. Effect of IL-12 encoding plasmid administration on tight-skin mouse. Biochem Biophys Res Commun 280(3):707-12. [PubMed: 11162578]  [MGI Ref ID J:67087]

Walker M; Harley R; Maize J; DeLustro F; LeRoy EC. 1985. Mast cells and their degranulation in the Tsk mouse model of scleroderma. Proc Soc Exp Biol Med 180(2):323-8. [PubMed: 4048170]  [MGI Ref ID J:8047]

Wallace VA; Kondo S; Kono T; Xing Z; Timms E; Furlonger C; Keystone E; Gauldie J; Sauder DN; Mak TW; Paige CJ. 1994. A role for CD4+ T cells in the pathogenesis of skin fibrosis in tight skin mice. Eur J Immunol 24(6):1463-6. [PubMed: 7911425]  [MGI Ref ID J:18913]

Wang HW; Tedla N; Hunt JE; Wakefield D; McNeil HP. 2005. Mast cell accumulation and cytokine expression in the tight skin mouse model of scleroderma. Exp Dermatol 14(4):295-302. [PubMed: 15810888]  [MGI Ref ID J:140307]

Weihrauch D; Xu H; Shi Y; Wang J; Brien J; Jones DW; Kaul S; Komorowski RA; Csuka ME; Oldham KT; Pritchard KA. 2007. Effects of D-4F on vasodilation, oxidative stress, angiostatin, myocardial inflammation, and angiogenic potential in tight-skin mice. Am J Physiol Heart Circ Physiol 293(3):H1432-41. [PubMed: 17496220]  [MGI Ref ID J:126106]

Xu H; Zaidi M; Struve J; Jones DW; Krolikowski JG; Nandedkar S; Lohr NL; Gadicherla A; Pagel PS; Csuka ME; Pritchard KA; Weihrauch D. 2011. Abnormal fibrillin-1 expression and chronic oxidative stress mediate endothelial mesenchymal transition in a murine model of systemic sclerosis. Am J Physiol Cell Physiol 300(3):C550-6. [PubMed: 21160034]  [MGI Ref ID J:171173]

Yao J; Eghbali M. 1992. Decreased collagen mRNA and regression of cardiac fibrosis in the ventricular myocardium of the tight skin mouse following thyroid hormone treatment. Cardiovasc Res 26(6):603-7. [PubMed: 1451140]  [MGI Ref ID J:1562]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX10

Colony Maintenance

Breeding & HusbandryFbn1Tsk is a heterozygous viable, homozygous lethal mutation. Bloc1s6pa is a recessive viable mutation. Although Fbn1Tsk +/+ Bloc1s6pa (double heterozygous) females may reproduce, they generally only produce one to two litters. Thus, it is best to use +Bloc1s6pa/+ Bloc1s6pa (homozygous pallid) females bred with Fbn1Tsk +/+ Bloc1s6pa (double heterozygous) males to propagate this strain.
Diet Information LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $199.90Female or MaleGenes in Repulsion; Heterozygous for Fbn1Tsk, Heterozygous for Bloc1s6pa  
$199.90Female or MaleGenes in Repulsion; Wild-type for Fbn1Tsk, Homozygous for Bloc1s6pa  
Price per Pair (US dollars $)Pair Genotype
$399.80Genes in Repulsion; Wild-type for Fbn1Tsk, Homozygous for Bloc1s6pa x Genes in Repulsion; Heterozygous for Fbn1Tsk, Heterozygous for Bloc1s6pa  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Live Mice

Price per mouse (US dollars $)GenderGenotypes Provided
Individual Mouse $259.90Female or MaleGenes in Repulsion; Heterozygous for Fbn1Tsk, Heterozygous for Bloc1s6pa  
$259.90Female or MaleGenes in Repulsion; Wild-type for Fbn1Tsk, Homozygous for Bloc1s6pa  
Price per Pair (US dollars $)Pair Genotype
$519.80Genes in Repulsion; Wild-type for Fbn1Tsk, Homozygous for Bloc1s6pa x Genes in Repulsion; Heterozygous for Fbn1Tsk, Heterozygous for Bloc1s6pa  

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Repository-Live.
Repository-Live represents an exclusive set of over 1800 unique mouse models across a vast array of research areas. Breeding colonies provide mice for large and small orders and fluctuate in size depending on current research demand. If a strain is not immediately available, you will receive an estimated availability timeframe for your inquiry or order in 2-3 business days. Repository strains typically are delivered at 4 to 8 weeks of age. Requests for specific ages will be noted but not guaranteed and we do not accept age requests for breeder pairs. However, if cohorts of mice (5 or more of one gender) are needed at a specific age range for experiments, we will do our best to accommodate your age request.

General Supply Notes

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

Control Information

  Control
   + Bloc1s6pa/+ Bloc1s6pa 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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JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

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In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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