Description

Strain Information

Type Congenic; Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain C57BL/6 Donor Strain Fbn1Tsk, C57BL/10Sn via B10.D2(58N); Pldnpa, wild-trapped mouse Generation F131 (05-DEC-07)

Appearance
Fbn1^Tsk: black, tight skin
Related Genotype: a/a Fbn1^Tsk +/+ Pldn^pa

Pldn^pa: pink-eyed; light, yellow brown coat
Related Genotype: a/a + Pldn^pa/+ Pldn^pa

Description
Mice homozygous for the pallid spontaneous mutation Pldn^pa and nonagouti (a) have pink eyes and a light, yellow-brown coat. The Pldn^pa/Pldn^pa mice have a slightly lighter coat than strains that are homozygous for the pink-eyed dilution allele (Oca2^p/Oca2^p). 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 (Muted^mu) and mocha (Ap3d1^mh), 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 tightskin spontaneous mutation (Fbn1^Tsk).

Control Information

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

Related Strains

Strains carrying   Pldn^pa allele

000477	B10.PA-Pldnpa H3e at/SnJ
000024	B6.Cg-Pldnpa/J
006931	B6.Cg-Pldnpa/JLlp

View Strains carrying   Pldn^pa     (3 strains)

Strains carrying other alleles of Fbn1

005704

B6.129-Fbn1tm2Rmz/J

View Strains carrying other alleles of Fbn1     (1 strain)

Additional Web Information

Congenic Nomenclature
Genetic Quality Control Annual Report

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms

	Emphysema, Hereditary Pulmonary - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies are distinct.2
	Marfan Syndrome; MFS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
NOT	Pituitary Adenoma, Growth Hormone-Secreting - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Scleroderma, Familial Progressive - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
	Stiff Skin Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). 2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Fbn1^Tsk Pldn⁺/Fbn1⁺ Pldn^pa

        B6.Cg-Fbn1^Tsk +/+ Pldn^pa/J

• cellular phenotype
• *normal* cellular phenotype (MGI Ref ID J:55591)
  • immunohistochemistry of endothelial cells from interscapular skin sections does not show indication of abnormal apoptosis, a symptom found in human scleroderma
• hematopoietic system phenotype
• *normal* hematopoietic system phenotype (MGI Ref ID J:29151)
  • no aberrant bleeding time after tail vein nick

Fbn1^Tsk/Fbn1⁺

        B6.Cg-Fbn1^Tsk

• respiratory system phenotype
• abnormal lung compliance (MGI Ref ID J:6566)
  • increase in lung compliance
• abnormal lung morphology (MGI Ref ID J:30961)
• abnormal bronchiole morphology (MGI Ref ID J:30961)
  • dilation of bronchioles
• abnormal respiratory alveolar duct morphology (MGI Ref ID J:30961)
  • dilation of alveolar ducts
  • enlarged alveolar ducts are first seen at 3 weeks of age
• abnormal respiratory alveoli morphology (MGI Ref ID J:30961)
  • thinning and destruction of alveolar walls
  • numerous broken alveolar septa and bullous lesions
  • alveoli are irregular in size, with most appearing enlarged
  • alveolar pores in septa are variable in size and increased in number
  • at 3 weeks of age, alveoli are flattened but not enlarged, however by 4-6 weeks af age, alveoli are enlarged
  • exhibit formation of bullae and subpleural cysts and fragmented elastin in alveolar walls
  • progressive destruction of alveolar septa and increase in collagen deposition in the septa that may result from repair of the lung destruction
  • enlargement of air spaces with numerous subpleural cysts and scattered bullae
  • increase in the number and size of the pores of Kohn
• overexpanded respiratory alveoli (MGI Ref ID J:30961)
  • distension of many alveoli
  • develop enlarged alveoli between 4 and 6 weeks of age
  • enlarged alveoli are 3 to 4 times larger than normal and show a histologic picture of emphysema
• thick alveolar septum (MGI Ref ID J:3934)
  • diffuse thickening of the septa not affected by emphysematous changes, resulting from a progressive increase in collagen
• abnormal total lung capacity (MGI Ref ID J:6566)
  • increase in total lung capacity
• emphysema (MGI Ref ID J:20724)
  • emphysematous lesions are seen at 4 weeks of age
• lung inflammation (MGI Ref ID J:30961)
  • exhibit alveolitis, with increased numbers of alveolar macrophages and neutrophils in the interstitium and alveolar lumens
  • macrophage-neutrophil alveolitis is seen at 3 weeks of age, at a time when emphysematous lesions are not yet present
  • presence of focal collections of mononuclear phagocytes, lymphocytes, and neutrophils within alveolar air spaces and in the interstitium
• immune system phenotype
• abnormal uterine NK cell morphology (MGI Ref ID J:1377)
  • 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
• increased autoantibody level (MGI Ref ID J:21987)
  • 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)
  • develop autoantibodies specific for scleroderma target antigens, with a bias toward the use of V_HJ558 genes and J_H2 and J_K2 segments
• increased mast cell number (MGI Ref ID J:8047)
  • increase in number and enhanced degree of degranulation of mast cells in the skin
• increased susceptibility to type IV hypersensitivity reaction (MGI Ref ID J:7185)
  • 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
• lung inflammation (MGI Ref ID J:30961)
  • exhibit alveolitis, with increased numbers of alveolar macrophages and neutrophils in the interstitium and alveolar lumens
  • macrophage-neutrophil alveolitis is seen at 3 weeks of age, at a time when emphysematous lesions are not yet present
  • presence of focal collections of mononuclear phagocytes, lymphocytes, and neutrophils within alveolar air spaces and in the interstitium
• skin/coat/nails phenotype
• abnormal skin morphology (MGI Ref ID J:8047)
  • increase in width of the subcutaneous fibrous layer with increasing age
  • significantly greater skin biopsy weights, however percent of water-fat is similar to wild-type
  • hexosamine, uronic acid, and total glycosaminoglycan content is increased in skin
• abnormal cutaneous collagen fibril morphology (MGI Ref ID J:68448)
  • electron micrographs of skin show a predominance of abnormally small diameter collagen fibers and the skin shows abundant irregular and wavy collagen bundles
• abnormal cutaneous microfibril morphology (MGI Ref ID J:46405)
  • 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
  • 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
  • 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
• abnormal skin physiology (MGI Ref ID J:8140)
  • cultured skin fibroblasts synthesize almost 5 times more Type I and Type III procollagen mRNA indicating production of excessive amounts of collagen
  • fibroblasts synthesize increased collagen both constitutively and in response to IL4 or TGFB, although IL13 does not increase fibroblast collagen synthesis
• thick skin (MGI Ref ID J:68448)
  • skin is 228 um thick on average instead of the wildtype 132 um
• hematopoietic system phenotype
• abnormal uterine NK cell morphology (MGI Ref ID J:1377)
  • 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
• increased mast cell number (MGI Ref ID J:8047)
  • increase in number and enhanced degree of degranulation of mast cells in the skin
• other phenotype
• fibrosis (MGI Ref ID J:68448)
  • develop skin fibrosis which results originally from collagen I and III overexpression and later collagen VI overexpression
  • unlike human scleroderma, fibrosis does not manifest Tgfb1 mRNA in areas of abnormal collagen deposition
• cardiovascular system phenotype
• abnormal aorta morphology (MGI Ref ID J:1326)
  • aorta exhibits hyperplasia of loose connective tissue in the adventitia
  • collagen fibers in the aorta are increased and microfibrils surrounding elastin in the adventitia of the aorta are not clearly apparent
• abnormal heart morphology (MGI Ref ID J:24523)
  • collagen deposition is increased in the heart
  • type I collagen is increased in the myocardium, perhaps due to reduced activity of negative regulatory sequence
  • 2.5-fold increase in type VI collagen content in myocardium
• abnormal right ventricle morphology (MGI Ref ID J:20724)
  • 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
• right ventricle hypertrophy (MGI Ref ID J:20724)
  • starts to develop at around 8 months of age
• cardiac fibrosis (MGI Ref ID J:24523)
  • exhibit myocardial fibrosis
  • thyroid hormone treatment decreases collagen synthesis and stimulates regression of cardiac fibrosis
• renal/urinary system phenotype
• abnormal urinary bladder morphology (MGI Ref ID J:3616)
  • 70% increase in collagen content and concentration in the bladder at 5-6 months of age
• abnormal urinary bladder physiology (MGI Ref ID J:3616)
  • functional bladder capacity appears to be greater
• polyuria (MGI Ref ID J:3616)
  • urinate larger volumes more frequently during the light cycle
• homeostasis/metabolism phenotype
• *normal* homeostasis/metabolism phenotype (MGI Ref ID J:29151)
  • no aberrant bleeding time after tail vein nick

Pldn^pa/Pldn^pa

        B6.Cg-Pldn^pa/J

• life span-post-weaning/aging
• premature death (MGI Ref ID J:53228)
  • survival beyond 16 months of age reduced to about 40%
• pigmentation phenotype
• abnormal melanosome morphology (MGI Ref ID J:80751)
  • immature melanosomes found in follicular melanocytes
  • increased numbers of multivesicular forms
  • striated forms more frequent as well but are usually misshapen and with irregular pigment
  • do not increase in size with maturation
• diluted coat color (MGI Ref ID J:99881)
  • display a generalized pigmented dilution
• ocular albinism (MGI Ref ID J:141035)
  • near total iris albinism
• respiratory system phenotype
• abnormal lung morphology (MGI Ref ID J:53228)
  • "honeycomb" effect on lung architecture
• abnormal respiratory alveoli morphology (MGI Ref ID J:88021)
  • by 16 months of age, enlarged airspaces and distruction of alveolar tissue
• abnormal respiratory mechanics (MGI Ref ID J:88021)
  • lung reactance values decrease with age relative to controls
• homeostasis/metabolism phenotype
• abnormal platelet physiology (MGI Ref ID J:7327)
  • platelet ATP and ADP levels are much lower than in C57BL/6J controls
• decreased platelet serotonin level (MGI Ref ID J:7327)
  • platetelet serotonin levels less than 1% of normal
• abnormal urine enzyme level (MGI Ref ID J:6219)
  • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
• increased bleeding time (MGI Ref ID J:7327)
  • greater than 15 minutes
• platelet storage pool deficiency (MGI Ref ID J:7327)
  • platelet ATP about half normal
  • platelet ADP a third to a half normal
  • reduced serotonin release after thrombin activation
  • lysosomal enzyme secretion after thrombin activation about half normal
• renal/urinary system phenotype
• abnormal kidney physiology (MGI Ref ID J:6219)
  • kidney beta-glucuronidase levels increased 2.5X
  • kidney levels of beta-galactosidase and alpha-mannosidase increased
  • increased rate of lysosomal enzyme synthesis in kidneys
• abnormal urine enzyme level (MGI Ref ID J:6219)
  • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
• behavior/neurological phenotype
• ataxia (MGI Ref ID J:5215)
  • exaggerated ataxia in some mice after a swim test
• impaired balance (MGI Ref ID J:5215)
  • sometimes seen to roll over at the end of a swim test
• head tilt (MGI Ref ID J:5215)
  • seen in about 25% of homozygotes
• impaired swimming (MGI Ref ID J:89392)
  • erratic swimming pattern in some mice with head tilt
  • 55/99 mice unable to swim - related to absence of normal otoliths
• tonic seizures (MGI Ref ID J:5215)
  • momentary, in mice displaying head tilt when first placed in water for a swim test
• hearing/vestibular/ear phenotype
• abnormal linear vestibular evoked potential (MGI Ref ID J:89392)
  • variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present
  • mice with absent otoconia show absent vestibular compound action potentials
• abnormal otolith morphology (MGI Ref ID J:89392)
  • variable presence of otoliths - from normal to complete absence
  • otolith development improves by maternal feeding with increased levels of manganese during early gestation
• head tilt (MGI Ref ID J:5215)
  • seen in about 25% of homozygotes
• hematopoietic system phenotype
• abnormal platelet dense granule number (MGI Ref ID J:7327)
  • fewer dense granules per platelet
• abnormal platelet physiology (MGI Ref ID J:7327)
  • platelet ATP and ADP levels are much lower than in C57BL/6J controls
• decreased platelet serotonin level (MGI Ref ID J:7327)
  • platetelet serotonin levels less than 1% of normal
• platelet storage pool deficiency (MGI Ref ID J:7327)
  • platelet ATP about half normal
  • platelet ADP a third to a half normal
  • reduced serotonin release after thrombin activation
  • lysosomal enzyme secretion after thrombin activation about half normal
• nervous system phenotype
• tonic seizures (MGI Ref ID J:5215)
  • momentary, in mice displaying head tilt when first placed in water for a swim test
• cellular phenotype
• abnormal lysosome physiology (MGI Ref ID J:6801)
  • significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts
• immune system phenotype
• abnormal NK cell physiology (MGI Ref ID J:6801)
  • lower natural killer cell activity
• skin/coat/nails phenotype
• *normal* skin/coat/nails phenotype (MGI Ref ID J:68448)
  • electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition
• diluted coat color (MGI Ref ID J:99881)
  • display a generalized pigmented dilution
• vision/eye phenotype
• ocular albinism (MGI Ref ID J:141035)
  • near total iris albinism

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

Fbn1^Tsk/Fbn1⁺

        B10.D2/(58N)Sn

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

Fbn1^Tsk/Fbn1^Tsk

        B10.D2/(58N)Sn

• lethality-prenatal/perinatal
• embryonic lethality before somite formation (MGI Ref ID J:5629)
  • die at 7-8 days of gestation

Pldn^pa/Pldn^pa

        involves: wild-derived

• skin/coat/nails phenotype
• diluted coat color (MGI Ref ID J:13138)
  • pale agouti
• vision/eye phenotype
• reduced eye pigmentation (MGI Ref ID J:13138)
  • pink eyes
• pigmentation phenotype
• diluted coat color (MGI Ref ID J:13138)
  • pale agouti
• reduced eye pigmentation (MGI Ref ID J:13138)
  • pink eyes

View Research Applications

Research Applications

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

Fbn1^Tsk related

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Defects in Extracellular Matrix Molecules

Internal/Organ Research
Lung Defects (emphysema)

Mouse/Human Gene Homologs
Marfan syndrome

Pldn^pa 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 and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Fbn1Tsk
Allele Name		tight skin
Allele Type		Spontaneous
Common Name(s)		TSK;
Strain of Origin		B10.D2/(58N)Sn
Gene Symbol and Name		Fbn1, fibrillin 1
Chromosome		2
Gene Common Name(s)		AI536462; FBN; Fib-1; MASS; MFS1; OCTD; SGS; Tsk; WMS; 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. [MGI Ref ID J:32931] [MGI Ref ID J:45733] [MGI Ref ID J:55886]
Allele Symbol		Pldnpa
Allele Name		pallid
Allele Type		Spontaneous
Common Name(s)		pa;
Strain of Origin		wild
Gene Symbol and Name		Pldn, pallidin
Chromosome		2
Gene Common Name(s)		BLOC-1; BLOC-1 subunit; MGC114534; PA; PALLID; pa; pallid;
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]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Fbn1^Tsk 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]

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]

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]

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]

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]

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; 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]

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]

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]

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. . 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]

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]

Pldn^pa related

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]

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]

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]

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]

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]

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]

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]

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. 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]

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]

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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

Colony Maintenance

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

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	+ Pldnpa/+ Pldnpa from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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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Ordering and Purchasing Information

      Purchasing Information
      JAX^® Mice Orders
      Surgical Services

Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials 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 The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.