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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
Generation DefinitionsDescription
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 | ||
|---|---|---|
| 000666 C57BL/10SnJ | ||
| Considerations for Choosing Controls | ||
Strains carrying Pldnpa allele
000305 B6.Cg-Fbn1Tsk +/+ Pldnpa/J 000024 B6.Cg-Pldnpa/J View Strains carrying Pldnpa (2 strains)
Strains carrying at allele
000419 B10.UW-H3b we Pax1un at/SnJ 000065 B6C3Fe a/a-we Pax1un at/J 000262 LS/LeJ View Strains carrying at (3 strains)
Strains carrying other alleles of H3
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 View Strains carrying other alleles of H3 (7 strains)
Strains carrying other alleles of Pldn
000305 B6.Cg-Fbn1Tsk +/+ Pldnpa/J 000024 B6.Cg-Pldnpa/J View Strains carrying other alleles of Pldn (2 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (178 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms provided by MGI
Emphysema, Hereditary Pulmonary 5 Storage Pool Platelet Disease 5
5 Conditionally targeted allele(s) View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Pldnpa/Pldnpa
involves: wild-derived
- vision/eye phenotype
- reduced eye pigmentation
- pink eyes (MGI Ref ID J:13138)
- pigmentation phenotype
- diluted coat color
- pale agouti (MGI Ref ID J:13138)
- reduced eye pigmentation
- pink eyes (MGI Ref ID J:13138)
- integument phenotype
- diluted coat color
- pale agouti (MGI Ref ID J:13138)
Pldnpa/Pldnpa
B6.Cg-Pldnpa/J
- mortality/aging
- premature death
- survival beyond 16 months of age reduced to about 40% (MGI Ref ID J:53228)
- pigmentation phenotype
- abnormal melanosome morphology
- immature melanosomes found in follicular melanocytes (MGI Ref ID J:80751)
- increased numbers of multivesicular forms (MGI Ref ID J:80751)
- striated forms more frequent as well but are usually misshapen and with irregular pigment (MGI Ref ID J:80751)
- do not increase in size with maturation (MGI Ref ID J:80751)
- diluted coat color
- display a generalized pigmented dilution (MGI Ref ID J:99881)
- ocular albinism
- near total iris albinism (MGI Ref ID J:141035)
- respiratory system phenotype
- abnormal lung morphology
- "honeycomb" effect on lung architecture (MGI Ref ID J:53228)
- at 8 months of age loss of endothelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen (MGI Ref ID J:4098)
- by 12 months of age changes in lung morphology become more severe (MGI Ref ID J:4098)
- prior to 8 months of age no abnormalities are detected in the lung (MGI Ref ID J:4098)
- abnormal lung interstitium morphology
- abnormal pulmonary alveolus morphology
- by 16 months of age, enlarged airspaces and destruction of alveolar tissue (MGI Ref ID J:88021)
- cellular debris in the alveolar spaces is seen in mice at 8 months of age (MGI Ref ID J:4098)
- at 12 and 24 months of age some lungs show a few patchy areas of air space enlargement accompanied by alveolar septal destruction (MGI Ref ID J:4098)
- abnormal pulmonary alveolus epithelium morphology
- at 8 months of age loss of epithelial cells accompanied by the presence of cellular debris in the alveolar spaces is seen (MGI Ref ID J:4098)
- emphysema
- emphysematous lesions are seen beginning at 12 months of age (MGI Ref ID J:4098)
- abnormal respiratory system physiology
- lung elastin levels are significantly reduced compared to controls (MGI Ref ID J:4098)
- abnormal lung volume
- lung volume is decreased at 8 months of age but increased at 12 and 28 months of age relative to age matched controls (MGI Ref ID J:4098)
- abnormal respiratory mechanics
- lung reactance values decrease with age relative to controls (MGI Ref ID J:88021)
- emphysema
- emphysematous lesions are seen beginning at 12 months of age (MGI Ref ID J:4098)
- lung inflammation
- at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells (MGI Ref ID J:4098)
- pulmonary edema
- at 12 months of age edema is seen in patches of the interstitium (MGI Ref ID J:4098)
- homeostasis/metabolism phenotype
- abnormal blood homeostasis
- serum elastase inhibitory capacity and alpha1-antitrypsin levels are significantly reduced compared to controls (MGI Ref ID J:4098)
- abnormal urine enzyme level
- reduced secretion of lysosomal enzymes into the urine of testosterone treated mice (MGI Ref ID J:6219)
- decreased platelet serotonin level
- platetelet serotonin levels less than 1% of normal (MGI Ref ID J:7327)
- pulmonary edema
- at 12 months of age edema is seen in patches of the interstitium (MGI Ref ID J:4098)
- renal/urinary system phenotype
- abnormal kidney physiology
- abnormal urine enzyme level
- reduced secretion of lysosomal enzymes into the urine of testosterone treated mice (MGI Ref ID J:6219)
- behavior/neurological phenotype
- ataxia
- exaggerated ataxia in some mice after a swim test (MGI Ref ID J:5215)
- head tilt
- seen in about 25% of homozygotes (MGI Ref ID J:5215)
- impaired balance
- sometimes seen to roll over at the end of a swim test (MGI Ref ID J:5215)
- impaired swimming (MGI Ref ID J:89392)
- tonic seizures
- momentary, in mice displaying head tilt when first placed in water for a swim test (MGI Ref ID J:5215)
- hearing/vestibular/ear phenotype
- abnormal linear vestibular evoked potential
- abnormal otolith morphology (MGI Ref ID J:89392)
- hematopoietic system phenotype
- abnormal platelet activation
- abnormal platelet dense granule number
- fewer dense granules per platelet (MGI Ref ID J:7327)
- decreased platelet ADP level
- platelet ADP levels are a third to a half that of C57BL/6J controls (MGI Ref ID J:7327)
- decreased platelet ATP level
- platelet ATP levels are about half that of C57BL/6J controls (MGI Ref ID J:7327)
- decreased platelet serotonin level
- platetelet serotonin levels less than 1% of normal (MGI Ref ID J:7327)
- nervous system phenotype
- tonic seizures
- momentary, in mice displaying head tilt when first placed in water for a swim test (MGI Ref ID J:5215)
- cellular phenotype
- abnormal lysosome physiology
- significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts (MGI Ref ID J:6801)
- immune system phenotype
- abnormal NK cell physiology
- lower natural killer cell activity (MGI Ref ID J:6801)
- lung inflammation
- at 24 months of age lungs that don't display air space enlargement have scattered intraalveolar infiltration of inflammatory cells (MGI Ref ID J:4098)
- vision/eye phenotype
- ocular albinism
- near total iris albinism (MGI Ref ID J:141035)
- growth/size phenotype
- increased body weight
- at 12 months of age but not at 8 or 28 months of age (MGI Ref ID J:4098)
- integument phenotype
- *normal* integument phenotype
- electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition (MGI Ref ID J:68448)
- diluted coat color
- display a generalized pigmented dilution (MGI Ref ID J:99881)
Pldnpa/Pldnpa
Background Not Specified
- other phenotype
- maternal effect
- homozygotes from dams fed a diet high in manganese during pregnancy do not display ataxia or the inability to orient in water (MGI Ref ID J:5680)
The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.a/a Pldnpa/Pldnpa
involves: C57BL/6J
- pigmentation phenotype
- abnormal retinal melanin granule morphology
- vision/eye phenotype
- abnormal retinal melanin granule morphology
View Research Applications
Research Applications
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 Defects
Sensorineural Research
Vestibular Defects
Dermatology Research
Color and White Spotting Defects
| 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; HPS9; PA; PALLID; pa; pallid; | ||
| General Note | Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:7946) | ||
| Molecular Note | The C to T substitution at nucleotide 787 introduces a premature stop codon in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. [MGI Ref ID J:2185] [MGI Ref ID J:64907] | ||
| Allele Symbol | 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; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| General Note | 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; | ||
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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]
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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]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Dunn LC. 1928. A Fifth Allelomorph in the Agouti Series of the House Mouse. Proc Natl Acad Sci U S A 14(10):816-9. [PubMed: 16587414] [MGI Ref ID J:15011]
Dunn LC. 1936. Studies on multiple allelomorphic series in the house mouse. I. Description of agouti and albino series of allelomorphs J Genet 33:443-53. [MGI Ref ID J:22600]
Galbraith DB; Wolff GL; Brewer NL. 1980. Hair pigment patterns in different integumental environments of the mouse. Influence of the agouti suppressor (A<s>) mutation on expression of agouti locus alleles. J Hered 71:229-234. [MGI Ref ID J:12033]
Hollander WF. 1973. a<t>/a Mouse News Lett 48:33. [MGI Ref ID J:27528]
Leamy LJ; Hrubant HE. 1971. Effects of alleles at the agouti locus on odontometric traits in the C57BL-6 strain of house mice. Genetics 67(1):87-96. [PubMed: 5556294] [MGI Ref ID J:16571]
Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. [PubMed: 8449404] [MGI Ref ID J:4186]
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Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.Colony Maintenance
Diet Information LabDiet® 5K54
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
![]() |
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery - Standard.
We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
| Control | ||
|---|---|---|
| 000666 C57BL/10SnJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.