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- Description
- Phenotype
- Genes & alleles
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/10Sn Donor Strain B10.PA-Pldnpa H3e at/Sn Generation N11F76p Description
This minor histocompatibility 3 (H3e) congenic strain is also carrying the closely linked pallid mutation (Pldnpa) as well as the black and tan allele of nonagouti also residing on Chromosome 2. Histocompatibility 3 is one of several loci isolated and identified by Dr. George Snell and co-workers. Histocompatibility gene differences were identified by generating congenic resistant strains and testing for resistance to transplantable tumors. Homozygous pallid mice have pink eyes, a diluted coat color and their viability 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 (Mutedmu) and mocha (Ap3d1mh), present a similar concatenation of pigment, otolith, and platelet SPD abnormalities, which also occur in human Hermansky-Pudlak syndrome.
Control Information
| Control | ||
|---|---|---|
| 000666 C57BL/10SnJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pldnpa allele
000305 B6.Cg-Fbn1Tsk +/+ Pldnpa/J 000024 B6.Cg-Pldnpa/J View Strains carrying Pldnpa (2 strains)
000419 B10.UW-H3b we Pax1un at/SnJ 000065 B6C3Fe a/a-we Pax1un at/J 000262 LS/LeJ
000433 B10.C-H3c H13? A/(28NX)SnJ 000429 B10.C-H3c/SnJ 000424 B10.KR-H3d/SnJ 000422 B10.LP-H3b H13b/(36NS)Sn 000421 B10.LP-H3b/Sn 000419 B10.UW-H3b we Pax1un at/SnJ 001286 B6.C-H3c/ByJ
Phenotype
Phenotype Information
Emphysema, Hereditary Pulmonary - Models with phenotypic similarity to human disease where etiologies are distinct.2 Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies are distinct.2 Storage Pool Platelet Disease - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Pldnpa/Pldnpa
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
Pldnpa/Pldnpa
B6.Cg-Pldnpa/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
- at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen
- by 12 months of age changes in lung morphology become more severe
- prior to 8 months of age no abnormalities are detected in the lung
- abnormal lung epithelium morphology (MGI Ref ID J:4098)
- at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen
- abnormal lung interstitium morphology (MGI Ref ID J:4098)
- at 8 months of age the interstitial matrix appears disorganized due to the presence of cytoplasmic remnants in the alveolar interstitium
- at 12 months of age large lipid droplets and edema are seen in patches of the interstitium
- abnormal respiratory alveoli morphology (MGI Ref ID J:88021)
- by 16 months of age, enlarged airspaces and distruction of alveolar tissue
- cellular debris in the alveolar spaces is seen in mice at 8 months of age
- at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction
- emphysema (MGI Ref ID J:4098)
- emphysematous lesions are seen beginning at 12 months of age
- abnormal respiratory system physiology (MGI Ref ID J:4098)
- lung elastin levels are significantly reduced compared to controls
- abnormal lung capacity (MGI Ref ID J:4098)
- lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls
- abnormal respiratory mechanics (MGI Ref ID J:88021)
- lung reactance values decrease with age relative to controls
- lung inflammation (MGI Ref ID J:4098)
- at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells
- pulmonary edema (MGI Ref ID J:4098)
- at 12 months of age edema is seen in patches of the interstitium
- homeostasis/metabolism phenotype
- abnormal blood homeostasis (MGI Ref ID J:4098)
- serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls
- abnormal platelet activation (MGI Ref ID J:7327)
- reduced serotonin release after thrombin activation
- lysosomal enzyme secretion after thrombin activation about half normal
- decreased platelet ADP level (MGI Ref ID J:7327)
- platelet ADP levels are a third to a half that of C57BL/6J controls
- decreased platelet ATP level (MGI Ref ID J:7327)
- platelet ATP levels are about half that of C57BL/6J controls
- decreased platelet serotonin level (MGI Ref ID J:7327)
- platetelet serotonin levels less than 1% of normal
- increased bleeding time (MGI Ref ID J:7327)
- greater than 15 minutes
- abnormal urine enzyme level (MGI Ref ID J:6219)
- reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
- pulmonary edema (MGI Ref ID J:4098)
- at 12 months of age edema is seen in patches of the interstitium
- 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 activation (MGI Ref ID J:7327)
- reduced serotonin release after thrombin activation
- lysosomal enzyme secretion after thrombin activation about half normal
- abnormal platelet dense granule number (MGI Ref ID J:7327)
- fewer dense granules per platelet
- decreased platelet ADP level (MGI Ref ID J:7327)
- platelet ADP levels are a third to a half that of C57BL/6J controls
- decreased platelet ATP level (MGI Ref ID J:7327)
- platelet ATP levels are about half that of C57BL/6J controls
- decreased platelet serotonin level (MGI Ref ID J:7327)
- platetelet serotonin levels less than 1% of 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
- lung inflammation (MGI Ref ID J:4098)
- at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells
- 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
- growth/size phenotype
- increased body weight (MGI Ref ID J:4098)
- at 12 months of age but not at 8 or 28 months of age
Pldnpa/Pldnpa
Background Not Specified
- other phenotype
- maternal effect (MGI Ref ID J:5680)
- homozygotes from dams fed a diet high in manganese during pregnancy do not display ataxia or the inability to orient in water
This mouse can be used to support research in many areas including:
Pldnpa relatedImmunology and Inflammation Research
CD Antigens, Antigen Receptors, and Histocompatibility Markers
at relatedDermatology 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
Dermatology Research
Color and White Spotting Defects
Genes & Alleles
Gene & Allele Information
| 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] | ||
| Allele Symbol | at | ||
| Allele Name | black and tan | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | English fancy stock | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| General Note | The black and tan mutation was found by Dunn (J:15011) in a strain obtained from an English fancier. The back is black and the belly cream or yellow. Effects are recessive to A on back but dominant on belly. A/at mice resemble Aw/-.Dermal--epidermal recombination experiments have shown that the regional differences in color are determined by gene action in the dermis (J:5672).This allele is recessive to A and Aw on the dorsum and dominant to all agouti alleles on the ventrum except for Aw from which it is indistinguishable (J:78801) . | ||
| Molecular Note | This allele comprises a 6 kb insertion containing a retrovirus-like transposable element VL30 and a single 526 bp repeat into the first intron of the agouti gene at the same position as for alleles a and Aw. [MGI Ref ID J:16984] | ||
| Gene Symbol and Name | H3, histocompatibility 3 | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | H-3; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
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]
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]
Pldnpa relatedat relatedAlexander 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]
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]
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]
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]
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. 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]
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]
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]
Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. [PubMed: 8125260] [MGI Ref ID J:16984]
Candille SI; Raamsdonk CD; Chen C; Kuijper S; Chen-Tsai Y; Russ A; Meijlink F; Barsh GS. 2004. Dorsoventral patterning of the mouse coat by tbx15. PLoS Biol 2(1):E3. [PubMed: 14737183] [MGI Ref ID J:87455]
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Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
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"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.No Warranty
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