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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Former Names B6C3Fe-a/a-Papss2bm Hps1ep ru (Changed: 15-DEC-04 ) B6C3Fe-a/a-Papss2bm ep ru (Changed: 15-DEC-04 ) Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N50 Development
The mutation brachymorphic (Papss2bm) arose spontaneously in a sibling mated line of mahogany (Atrnmg) at F12 in 1964. Mahogany had arisen on a mixed C3H Swiss background at the Jackson Laboratory. Brachymorphic was outcrossed once to C57BL/6J and then sibling mated. At F15 in 1969 a homozygous brachymorphic mouse (Papss2bm/Papss2bm) was outcrossed to a pale ear (Hps1ep) ruby (Hps6ru) homozygote. This was an F2 from a cross of a sibling mated pale ear ruby line inbred to F13 then bred with a C57BL/6J. Pale ear (Hps1ep) had arisen in C3HeB/FeJ at the Jackson Laboratory in 1959 and been backcrossed onto C57BL/6J to N6 or more. Ruby (Hps6ru) had arisen in a heterogeneous stock before 1945 and was from a multiple non-inbred recessive stock of Dr. G. D. Snell. The F1's of this cross were mated and selected F2's were mated to produce the triple homozygote with all three loci on the same chromosome. The triple homozygote in which all three loci were closely linked was crossed once to C57BL/6J and then the stock was sibling mated by forced heterozygosis to F7 before it was crossed to the B6C3Fe a/a hybrid in 1972. Backcrossing to the hybrid was continued using the cross-intercross method and the resulting strain was cryopreserved in 1995 by mating triple homozygous males at N49 to B6C3Fe a/a F1 females.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Hps1ep allele
000050 B6.C3Fe-H51 Hps1ep /ByJ 000525 B6.C3Fe-Hps1ep/J 006930 B6.C3Fe-Hps1ep/JLlp View Strains carrying Hps1ep (3 strains)
000103 B6.Cg-Hps6ru/J 006929 B6.Cg-Hps6ru/JLlp 000259 JE/LeJ
000205 B6C3Fe a/a-Papss2bm/J
002424 B6 x C3H/HeJ-Hps6ru-6J/J
Phenotype
Phenotype Information
Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Spondyloepimetaphyseal Dysplasia, Pakistani Type - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Storage Pool Platelet Disease - Models with phenotypic similarity to human disease where etiologies involve orthologs.1 Storage Pool Platelet Disease - 5
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
5 Conditionally targeted allele(s)assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Hps1ep/Hps1ep
either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)
- vision/eye phenotype
- abnormal eye pigmentation (MGI Ref ID J:5032)
- reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth
- eyes darken with age
- skin/coat/nails phenotype
- diluted coat color (MGI Ref ID J:5032)
- paler coat color as juveniles but becoming darker in adults
- also light colored ears and tail
- pigmentation phenotype
- abnormal eye pigmentation (MGI Ref ID J:5032)
- reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth
- eyes darken with age
- abnormal melanosome morphology (MGI Ref ID J:5032)
- smaller pigment granules reported on this mixed genetic background
- diluted coat color (MGI Ref ID J:5032)
- paler coat color as juveniles but becoming darker in adults
- also light colored ears and tail
Hps1ep/Hps1ep
involves: C3HeB/FeJ * C57BL/6J
- vision/eye phenotype
- abnormal choroid pigmentation (MGI Ref ID J:42484)
- abnormally large melanosomes in choroidal melanocytes
- abnormal ciliary body pigmentation (MGI Ref ID J:6064)
- reduced
- abnormal retina morphology (MGI Ref ID J:6064)
- reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve
- respiratory system phenotype
- abnormal lung epithelium morphology (MGI Ref ID J:85431)
- type II epithelial cells with enlarge lamellar bodies
- hematopoietic system phenotype
- abnormal platelet dense granule number (MGI Ref ID J:42484)
- very few dense bodies in platelets
- abnormal platelet physiology (MGI Ref ID J:42484)
- abnormal platelet aggregation, lower rate
- decreased ATP release
- reduced secretion of stored serotonin after thrombin stimulation
- increased secretion of lysosomal enzymes
- decreased platelet ADP level (MGI Ref ID J:7327)
- ADP levels reduced 2.6-6X
- decreased platelet ATP level (MGI Ref ID J:7327)
- ATP levels reduced 1.4-2X
- decreased platelet serotonin level (MGI Ref ID J:7327)
- 4.5 fold reduction in platelet serotonin
- homeostasis/metabolism phenotype
- abnormal circulating enzyme level (MGI Ref ID J:6219)
- serum levels of beta glucuronidase and beta galactosidase elevated
- abnormal platelet physiology (MGI Ref ID J:42484)
- abnormal platelet aggregation, lower rate
- decreased ATP release
- reduced secretion of stored serotonin after thrombin stimulation
- increased secretion of lysosomal enzymes
- decreased platelet ADP level (MGI Ref ID J:7327)
- ADP levels reduced 2.6-6X
- decreased platelet ATP level (MGI Ref ID J:7327)
- ATP levels reduced 1.4-2X
- decreased platelet serotonin level (MGI Ref ID J:7327)
- 4.5 fold reduction in platelet serotonin
- increased bleeding time (MGI Ref ID J:7327)
- renal/urinary system phenotype
- abnormal kidney physiology (MGI Ref ID J:6219)
- beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment
- abnormal kidney excretion (MGI Ref ID J:6219)
- secretion of lysosomal enzymes in urine is decreased
- enlarged kidney (MGI Ref ID J:6219)
- hypertrophy as a result of testosterone treatment
- immune system phenotype
- abnormal macrophage physiology (MGI Ref ID J:7869)
- several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride
- proenzymes are secreted however
- pigmentation phenotype
- abnormal choroid pigmentation (MGI Ref ID J:42484)
- abnormally large melanosomes in choroidal melanocytes
- abnormal ciliary body pigmentation (MGI Ref ID J:6064)
- reduced
- abnormal melanosome morphology (MGI Ref ID J:42484)
- melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background
Hps1ep/Hps1ep
B6.C3Fe-Hps1ep/J
- 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
- increased lysosomal enzyme secretion (MGI Ref ID J:7327)
- thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase
- immune system phenotype
- abnormal NK cell physiology (MGI Ref ID J:6801)
- lower natural killer cell activity
- pigmentation phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:99881)
- display a reduction in pigmentation of the tail and ears
- abnormal iris pigmentation (MGI Ref ID J:141035)
- the iris is slightly dark
- skin/coat/nails phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:99881)
- display a reduction in pigmentation of the tail and ears
- hematopoietic system phenotype
- decreased platelet ADP level (MGI Ref ID J:7327)
- platelet ADP levels are much lower than in C57BL/6J controls
- decreased platelet ATP level (MGI Ref ID J:7327)
- platelet ATP levels are much lower than in C57BL/6J controls
- decreased platelet serotonin level (MGI Ref ID J:7327)
- 4.5 fold less platelet serotonin than in C57BL/6J control platelets
- platelet serotonin level is also lower than that of control when fed an atherogenic diet
- homeostasis/metabolism phenotype
- decreased platelet ADP level (MGI Ref ID J:7327)
- platelet ADP levels are much lower than in C57BL/6J controls
- decreased platelet ATP level (MGI Ref ID J:7327)
- platelet ATP levels are much lower than in C57BL/6J controls
- decreased platelet serotonin level (MGI Ref ID J:7327)
- 4.5 fold less platelet serotonin than in C57BL/6J control platelets
- platelet serotonin level is also lower than that of control when fed an atherogenic diet
- increased bleeding time (MGI Ref ID J:7327)
- bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
- cardiovascular system phenotype
- increased susceptibility to atherosclerosis (MGI Ref ID J:29748)
- on an atherogenic diet homozygotes develop larger atherosclerotic lesions in the aorta than C57BL/6J controls
- vision/eye phenotype
- abnormal iris pigmentation (MGI Ref ID J:141035)
- the iris is slightly dark
Hps1ep/Hps1ep
involves: C3HeB/FeJ
- pigmentation phenotype
- abnormal melanosome morphology (MGI Ref ID J:80751)
- marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms
Hps6ru/Hps6ru
B6.Cg-Hps6ru
- hematopoietic system phenotype
- abnormal platelet dense granule number (MGI Ref ID J:7327)
- fewer platelet dense granules than normal
- decreased platelet ADP level (MGI Ref ID J:7327)
- platelet ADP levels are much lower than in C57BL/6J controls
- decreased platelet ATP level (MGI Ref ID J:7327)
- platelet ATP levels are much lower than in C57BL/6J controls
- decreased platelet serotonin level (MGI Ref ID J:7327)
- less than 7% of normal levels of platelet serotonin
- platelet serotonin level is also lower than that of control when fed an atherogenic diet
- homeostasis/metabolism phenotype
- decreased platelet ADP level (MGI Ref ID J:7327)
- platelet ADP levels are much lower than in C57BL/6J controls
- decreased platelet ATP level (MGI Ref ID J:7327)
- platelet ATP levels are much lower than in C57BL/6J controls
- decreased platelet serotonin level (MGI Ref ID J:7327)
- less than 7% of normal levels of platelet serotonin
- platelet serotonin level is also lower than that of control when fed an atherogenic diet
- increased bleeding time (MGI Ref ID J:7327)
- bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
- cardiovascular system phenotype
- decreased susceptibility to atherosclerosis (MGI Ref ID J:29748)
- on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
- 60% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherosclerotic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherogenic diet
Hps6ru/Hps6ru
Background Not Specified
- pigmentation phenotype
- abnormal eye pigmentation (MGI Ref ID J:13122)
- at birth the iris pigment ring is lacking and adults have ruby colored eyes
- diluted coat color (MGI Ref ID J:13122)
- vision/eye phenotype
- abnormal eye pigmentation (MGI Ref ID J:13122)
- at birth the iris pigment ring is lacking and adults have ruby colored eyes
- skin/coat/nails phenotype
- diluted coat color (MGI Ref ID J:13122)
Papss2bm/Papss2bm
LDJ/Le
- life span-post-weaning/aging
- premature death (MGI Ref ID J:5109)
- a few mutants die from malocclusion
- craniofacial phenotype
- cleft palate (MGI Ref ID J:15031)
- increased sensitivity to hydrocortisone induced development of cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
- domed skull (MGI Ref ID J:5109)
- short, domed skull
- longitudinally short skull (MGI Ref ID J:5109)
- skull length is 89% of normal
- malocclusion (MGI Ref ID J:5109)
- in some cases leads to death
- digestive/alimentary phenotype
- abnormal digestive system morphology (MGI Ref ID J:5109)
- at 30 days of age the gut length was 91% of normal
- by 60 days of age, gut length was normal
- cleft palate (MGI Ref ID J:15031)
- increased sensitivity to hydrocortisone induced development of cleft palate
- at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
- growth/size phenotype
- abnormal body weight (MGI Ref ID J:5109)
- organ weights at 30 days of age about 70-76% normal
- at 60 days of age organ weights varied between 78 and 140% of normal
- decreased body length (MGI Ref ID J:5109)
- body length is 90% of normal
- postnatal growth retardation (MGI Ref ID J:5109)
- retarded growth rate during first 4 weeks of life
- eventually attain near normal body weight
- body length about 90% normal
- limbs/digits/tail phenotype
- abnormal long bone epiphyseal plate morphology (MGI Ref ID J:49338)
- abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
- proliferating cartilage cell columns are shorter
- decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
- thinner epiphyseal plates
- decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
- abnormal tail morphology (MGI Ref ID J:5109)
- decreased length of long bones (MGI Ref ID J:49338)
- limb bones from 63 to 86% of normal length
- skeleton phenotype
- abnormal cancellous bone morphology (MGI Ref ID J:5109)
- primary trabeculae are shorter, less numerous, and not aligned as well as in controls
- abnormal long bone epiphyseal plate morphology (MGI Ref ID J:49338)
- abnormal long bone epiphyseal plate proliferative zone (MGI Ref ID J:5109)
- proliferating cartilage cell columns are shorter
- decreased long bone epiphyseal plate size (MGI Ref ID J:5109)
- thinner epiphyseal plates
- decreased width of hypertrophic chondrocyte zone (MGI Ref ID J:5109)
- decreased length of long bones (MGI Ref ID J:49338)
- limb bones from 63 to 86% of normal length
- domed skull (MGI Ref ID J:5109)
- short, domed skull
- longitudinally short skull (MGI Ref ID J:5109)
- skull length is 89% of normal
- malocclusion (MGI Ref ID J:5109)
- in some cases leads to death
Papss2bm/Papss2bm
B6C3Fe a/a-Papss2bm/J
- homeostasis/metabolism phenotype
- increased bleeding time (MGI Ref ID J:31800)
- bleeding time is increased 2.6- to 3-fold compared to controls
- however platelet numbers and function appear normal
This mouse can be used to support research in many areas including:Hps1ep related
Hps6ru relatedDermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects
platelet storage pool deficiency
Internal/Organ Research
Kidney Defects
lysosomal enzyme abnormalities
Papss2bm relatedDermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects
platelet storage pool deficiency
Internal/Organ Research
Kidney Defects
lysosomal enzyme abnormalities
Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome
Developmental Biology Research
Growth Defects
Skeletal Defects
Mouse/Human Gene Homologs
Arthritis
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Hps1ep | ||
|---|---|---|---|
| Allele Name | pale ear | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ep; | ||
| Strain of Origin | C3HeB/FeJ | ||
| Gene Symbol and Name | Hps1, Hermansky-Pudlak syndrome 1 homolog (human) | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 6030422N11Rik; BB405864; HPS; MGC5277; RIKEN cDNA 6030422N11 gene; ep; expressed sequence BB405864; pale ear; | ||
| General Note | Genbank ID for mutant allele: AF003867 | ||
| Molecular Note | The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild-type and homozygous mutant animals. [MGI Ref ID J:42484] | ||
| Allele Symbol | Hps6ru | ||
| Allele Name | ruby-eye | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ru; | ||
| Strain of Origin | STOCK Si | ||
| Gene Symbol and Name | Hps6, Hermansky-Pudlak syndrome 6 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 5330434M19Rik; BLOC-2; FLJ22501; Hsp6; MGC20522; MGC93064; RIKEN cDNA 5330434M19 gene; RP11-302K17.1; ru; ruby eye; ruby-eye; | ||
| General Note | The ruby-eye mutation was found by Dunn (J:13122) in a silver piebald stock of Danforth. Homozygotes at birth have unpigmented eyes that later darken to a ruby color. The black pigment of the coat is diluted to a dark slate color, and the yellow pigment is diluted slightly. Ruby-eye in homozygous condition greatly reduces the number of melanocytes in the retina, ear skin, Harderian gland, nictitans (J:12970), and retinal pigment epithelium (J:6064). It has the same effect on shape and color of pigment granules as brown (Tyrpb), i.e., it makes the granules spheroidal rather than ovoid as in wild-type, and it changes the color of the granules to dark brown (J:12970). The internal structure of the pigment granules is normal (J:5346, J:5001). This mutation has several effects in common with other mutations that reduce pigmentation (see Hps1). The ruby-eye mutation causes a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus (J:6064). The kidneyconcentration of lysosomal enzymes is elevated, probably because of a low rate of excretion into the urine. Lysosomal morphology is normal (J:6422). Ruby-eye mice have a platelet storage pool deficiency characterized by prolonged bleeding time, normal platelet number, and low platelet dense granule number and dense granule serotonin content (J:7327). A platelet function component related to atherosclerosis is blocked in homozygous ruby-eye mice though not in homozygous maroon mice (Hps5ru2-mr,J:29748). The Wdt2 gene located on Chr 1, a cell autonomous suppressor of pigment dilution gene effects (J:20796), suppresses the eye color effects of mutations at Hps6 and Hps5. Coat color dilution, which Wdt2 suppresses in Myo5a, Mlph, and Rab27a dilution genotypes, is not affected in mutant Hps6 or Hps5 homozygotes, or in a number of other dilution genotypes (J:29467). | ||
| Molecular Note | Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. [MGI Ref ID J:81444] | ||
| Allele Symbol | Papss2bm | ||
| Allele Name | brachymorphic | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | bm; | ||
| Strain of Origin | LDJ/Le-Grem1 | ||
| Gene Symbol and Name | Papss2, 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | ||
| Chromosome | 19 | ||
| Gene Common Name(s) | 1810018P12Rik; AI159688; ATPSK2; MGC189455; RIKEN cDNA 1810018P12 gene; SK2; bm; brachymorphic; expressed sequence AI159688; | ||
| Molecular Note | A point mutation resulting in a glycine to arginine substitution at the highly conserved codon 79 is predicted to be responsible for the mutant phenotype seen in the brachymorphic mouse. [MGI Ref ID J:49338] [MGI Ref ID J:50114] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
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
Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288] [MGI Ref ID J:81444]
Hps1ep relatedHps6ru relatedAnderson 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]
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]
Brown JA; Novak EK; Swank RT. 1985. Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways. J Cell Biol 100(6):1894-904. [PubMed: 3922995] [MGI Ref ID J:7869]
Chiang PW; Oiso N; Gautam R; Suzuki T; Swank RT; Spritz RA. 2003. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 278(22):20332-7. [PubMed: 12663659] [MGI Ref ID J:113973]
Clark EA; Shultz LD; Pollack SB. 1981. Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics 12(5-6):601-13. [PubMed: 6971254] [MGI Ref ID J:6485]
Feng GH; Bailin T; Oh J; Spritz RA. 1997. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 6(5):793-7. [PubMed: 9158155] [MGI Ref ID J:40195]
Feng L; Novak EK; Hartnell LM; Bonifacino JS; Collinson LM; Swank RT. 2002. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 99(5):1651-8. [PubMed: 11861280] [MGI Ref ID J:109721]
Gardner JM; Wildenberg SC; Keiper NM; Novak EK; Rusiniak ME; Swank RT ; Puri N ; Finger JN ; Hagiwara N ; Lehman AL ; Gales TL ; Bayer ME ; King RA ; Brilliant MH. 1997. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A 94(17):9238-43. [PubMed: 9256466] [MGI Ref ID J:42484]
Guttentag SH; Akhtar A; Tao JQ; Atochina E; Rusiniak ME; Swank RT; Bates SR. 2005. Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol 33(1):14-21. [PubMed: 15790974] [MGI Ref ID J:110954]
LaVail JH; Nixon RA; Sidman RL. 1978. Genetic control of retinal ganglion cell projections. J Comp Neurol 182(3):399-421. [PubMed: 102659] [MGI Ref ID J:6064]
Lane PW; Green EL. 1967. Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered 58(1):17-20. [PubMed: 6031677] [MGI Ref ID J:5032]
Lyerla TA; Rusiniak ME; Borchers M; Jahreis G; Tan J; Ohtake P; Novak EK; Swank RT. 2003. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol 285(3):L643-53. [PubMed: 12777251] [MGI Ref ID J:85431]
McGarry MP; Novak EK; Swank RT. 1986. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol 14(4):261-5. [PubMed: 3516713] [MGI Ref ID J:11990]
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]
Meisler MH; Wanner L; Strahler J. 1984. Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. J Hered 75(2):103-6. [PubMed: 6232310] [MGI Ref ID J:7416]
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]
Murray HW; Hariprashad J; McDermott DF; Stoeckle MY. 1996. Multiple host defense defects in failure of C57BL/6 ep/ep (pale ear) mice to resolve visceral Leishmania donovani infection. Infect Immun 64(1):161-6. [PubMed: 8557335] [MGI Ref ID J:30323]
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]
Nguyen T; Wei ML. 2007. Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. J Invest Dermatol 127(2):421-8. [PubMed: 17068483] [MGI Ref ID J:117715]
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; Hui SW; Swank RT. 1981. The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood 57(1):38-43. [PubMed: 7448413] [MGI Ref ID J:6448]
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]
Paigen B; Holmes PA; Novak EK; Swank RT. 1990. Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. Arteriosclerosis 10(4):648-52. [PubMed: 2369371] [MGI Ref ID J:29748]
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]
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]
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Health & husbandry
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Currently there no information available for this strain. This may be due to the supply level of this strain.
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Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
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.
Additional Supply Details
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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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Wild-type from the colony | ||
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| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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