Strain Name:

B6.Cg-Mcoln3Va/J

Stock Number:

000071

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Availability:

Cryopreserved - Ready for recovery

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 C57BL/6J-Mcoln3Va/J    (Changed: 23-FEB-10 )
C57BL/6J-Va    (Changed: 15-DEC-04 )
Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse

Description
Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3Va) are deaf and show circling behavior, head-tossing, and hyperactivity. Heterozygotes circle somewhat less than some of the other circling mutants. Their coats are variegated with patches of normal-colored, diluted, and white fur. Homozygotes show more intense behavioral abnormalities than heterozygotes, and their coats are white, except for small patches of unaltered color near the ears and base of the tail. The pathological changes in heterozygotes include degeneration of the organ of Corti, stria vascularis, spiral ganglion, saccular macula, cristae ampullares, and vestibular ganglion. In homozygotes the degenerative changes are more severe and also include the utricular macula. Viability of heterozygotes is nearly normal, but fertility is reduced. Mortality is very high in homozygotes, and very few of the survivors are fertile. Compound heterozygotes for the two alleles (Mcoln3Va-J/Mcoln3Va) are similar to Mcoln3Va-J/Mcoln3Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3Va-J/Mcoln3Va mice are considerably reduced.

Development
The varitant waddler mutation arose spontaneously at The Jackson Laboratory in 1942 and was first identified in the backcross offspring of (C57 black x C57 brown)F1 female x C57 black male. Following the Bar Harbor fire of 1947 the veritant waddler mutation was returned to The Jackson Laboratory in 1950 from T. C. Carter at Edinburgh in a linkage testing stock called E1 and containing rex, Danforth's short tail, and varitint waddler. At some later timepoint this mutation was backcrossed onto the C57BL/6J background by Dr. Elizabeth Russell. This congenic strain reached N27 in 1968, N62 in 1978, and in 1980 embryos were generated for cryopreservation from C57BL/6J females bred to heterozygous males at generation N66. In 2008 the cryopreserved bankstock was replenished via in vitro fertilization using C57BL/6J females and cryo-recovered heterozygous males at generation N67p.

Related Strains

Strains carrying   Mcoln3Va allele
000268   RSV/LeJ
View Strains carrying   Mcoln3Va     (1 strain)

Strains carrying other alleles of Mcoln3
000126   B6By.Cg-Etn2Sd Mcoln3Va-J Krt25Re/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
View Strains carrying other alleles of Mcoln3     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Mcoln3Va/Mcoln3+

        involves: C57BL * C57BR
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:13133)
  • increased or absent threshold for auditory brainstem response
    • at 2 weeks of age heterozygotes only return positive waveforms to an 8 kHz stimulus at 95 dB and by 3 weeks of age there is no response to click or 32 kHz stimuli   (MGI Ref ID J:78812)
  • behavior/neurological phenotype
  • abnormal locomotor coordination
    • waddling "duck like" walk   (MGI Ref ID J:13133)
  • abnormal maternal nurturing
    • neglect their young and trample pups   (MGI Ref ID J:13133)
  • circling
    • mixed circling habits are present as early as 14 days after birth   (MGI Ref ID J:13133)
  • head tossing
    • choreic head movements   (MGI Ref ID J:13133)
  • hyperactivity
    • usually in motion when not asleep, nodding and tossing their heads   (MGI Ref ID J:13133)
  • jumpy
    • in reaction to sudden jarring   (MGI Ref ID J:13133)
  • tonic seizures
    • a convulsive stiffening of the body in reaction ot sudden jarring   (MGI Ref ID J:13133)
  • nervous system phenotype
  • tonic seizures
    • a convulsive stiffening of the body in reaction ot sudden jarring   (MGI Ref ID J:13133)
  • pigmentation phenotype
  • diluted coat color   (MGI Ref ID J:78812)
  • variegated coat color
    • with patches of normal-colored, diluted, and white fur   (MGI Ref ID J:13133)
    • mottled coat
      • coat color is more dilute and mottled than in Va-J heterozygotes, with an entirely white ventrum and a large white spot on the forehead   (MGI Ref ID J:78812)
  • white spotting   (MGI Ref ID J:78812)
    • head spot   (MGI Ref ID J:78812)
  • reproductive system phenotype
  • reduced fertility
    • some of the heterozygous mice, especially the males are sterile   (MGI Ref ID J:13133)
  • integument phenotype
  • diluted coat color   (MGI Ref ID J:78812)
  • variegated coat color
    • with patches of normal-colored, diluted, and white fur   (MGI Ref ID J:13133)
    • mottled coat
      • coat color is more dilute and mottled than in Va-J heterozygotes, with an entirely white ventrum and a large white spot on the forehead   (MGI Ref ID J:78812)
  • white spotting   (MGI Ref ID J:78812)
    • head spot   (MGI Ref ID J:78812)

Mcoln3Va/Mcoln3+

        mixed
  • behavior/neurological phenotype
  • impaired coordination
    • a marked inability to negotiate a narrow bridge at two or three days before their eyes open   (MGI Ref ID J:13046)
  • impaired swimming
    • elderly heterozygous mice over 10 months old cannot swim   (MGI Ref ID J:13046)
  • hearing/vestibular/ear phenotype
  • abnormal cochlear hair cell morphology
    • unequal size of the hair cells by 11 day   (MGI Ref ID J:13046)
    • cochlear hair cell degeneration
      • some of hair cells disappear entirely by the 17th day   (MGI Ref ID J:13046)
      • the others are drastically reduced   (MGI Ref ID J:13046)
  • abnormal crista ampullaris morphology
    • at age of 25 days the hairs have mostly disappeared   (MGI Ref ID J:13046)
    • the gelatinous cupula remains   (MGI Ref ID J:13046)
  • abnormal stria vascularis morphology
    • becomes distinctly abnormal at the age of 17 days   (MGI Ref ID J:13046)
    • nuclei becomes rounded and later lose their cytoplasmic processes   (MGI Ref ID J:13046)
  • detached tectorial membrane
    • loses all contact with the organ of Corti by 7 days   (MGI Ref ID J:13046)
    • remain detached from the organ of Corti and later shrivels up   (MGI Ref ID J:13046)
  • enlarged tectorial membrane
    • staring 4 days of age   (MGI Ref ID J:13046)
    • the tectorial membrane in mutant mice forms a big bulge instead of forming a thin strand of the outer marginal zone   (MGI Ref ID J:13046)
  • nervous system phenotype
  • abnormal cochlear hair cell morphology
    • unequal size of the hair cells by 11 day   (MGI Ref ID J:13046)
    • cochlear hair cell degeneration
      • some of hair cells disappear entirely by the 17th day   (MGI Ref ID J:13046)
      • the others are drastically reduced   (MGI Ref ID J:13046)
  • abnormal vestibular ganglion morphology
    • the average cell size in the vestibular ganglion is reduced   (MGI Ref ID J:13046)
  • abnormal vestibulocochlear ganglion morphology
    • a change in the shape of the cells and their nuclei are seen starting at the age of 6 days   (MGI Ref ID J:13046)
  • cochlear ganglion degeneration
    • a reduction in cell size and density by 9 days   (MGI Ref ID J:13046)
    • destruction of nerve cells through life   (MGI Ref ID J:13046)

Mcoln3Va/Mcoln3Va

        involves: C57BL * C57BR
  • mortality/aging
  • partial prenatal lethality
    • mortality is very high in homozygotes, and very few of the survivors are fertile   (MGI Ref ID J:13133)
  • hearing/vestibular/ear phenotype
  • deafness   (MGI Ref ID J:13133)
  • behavior/neurological phenotype
  • abnormal locomotor coordination
    • waddling "duck like" walk   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • abnormal maternal nurturing
    • neglect their young and trample pups   (MGI Ref ID J:13133)
  • circling
    • mixed circling habits are present as early as 14 days after birth   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • head tossing
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • hyperactivity
    • usually in motion when not asleep, nodding and tossing their heads   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • jumpy
    • in reaction to sudden jarring   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • tonic seizures
    • a convulsive stiffening of the body in reaction to sudden jarring   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • nervous system phenotype
  • tonic seizures
    • a convulsive stiffening of the body in reaction to sudden jarring   (MGI Ref ID J:13133)
    • Homozygotes show more intense behavioral abnormalities than heterozygotes   (MGI Ref ID J:13133)
  • pigmentation phenotype
  • variegated coat color
    • their coats are white, except for small patches of unaltered color near the ears and base of the tail   (MGI Ref ID J:13133)
  • reproductive system phenotype
  • reduced fertility
    • very few of the survivors are fertile   (MGI Ref ID J:13133)
  • integument phenotype
  • variegated coat color
    • their coats are white, except for small patches of unaltered color near the ears and base of the tail   (MGI Ref ID J:13133)

Mcoln3Va/Mcoln3Va

        mixed
  • mortality/aging
  • partial prenatal lethality
    • mortality is very high in homozygotes   (MGI Ref ID J:13046)
  • behavior/neurological phenotype
  • impaired righting response
    • often homozygous do not right themselves   (MGI Ref ID J:13046)
  • hearing/vestibular/ear phenotype
  • abnormal crista ampullaris morphology
    • at age of 25 days the hairs have mostly disappeared   (MGI Ref ID J:13046)
    • the gelatinous cupula remains   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • abnormal stria vascularis morphology
    • becomes distinctly abnormal at the age of 17 days   (MGI Ref ID J:13046)
    • nuclei becomes rounded and later lose their cytoplasmic processes   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • cochlear hair cell degeneration
    • at 35 days the hair cells are gone   (MGI Ref ID J:13046)
    • the cells of Deiter are still present and not dedifferentiated   (MGI Ref ID J:13046)
  • detached tectorial membrane
    • loses all contact with the organ of Corti by 7 days   (MGI Ref ID J:13046)
    • remain detached from the organ of Corti and later shrivels up   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • enlarged tectorial membrane
    • staring 4 days of age   (MGI Ref ID J:13046)
    • the tectorial membrane in mutant mice forms a big bulge instead of forming a thin strand of the outer marginal zone   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • nervous system phenotype
  • abnormal vestibular ganglion morphology
    • the average cell size in the vestibular ganglion is reduced   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • abnormal vestibulocochlear ganglion morphology
    • a change in the shape of the cells and their nuclei are seen starting at the age of 6 days   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice   (MGI Ref ID J:13046)
  • cochlear ganglion degeneration
    • a reduction in cell size and density by 9 days   (MGI Ref ID J:13046)
    • destruction of nerve cells through life   (MGI Ref ID J:13046)
    • more severely affected than heterozygous mice and degeneration is quicker   (MGI Ref ID J:13046)
  • cochlear hair cell degeneration
    • at 35 days the hair cells are gone   (MGI Ref ID J:13046)
    • the cells of Deiter are still present and not dedifferentiated   (MGI Ref ID J:13046)
View Research Applications

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

Mcoln3Va related

Dermatology Research
Color and White Spotting Defects

Neurobiology Research
Hearing Defects
Vestibular Defects

Sensorineural Research
Hearing Defects
Vestibular Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Mcoln3Va
Allele Name varitint waddler
Allele Type Spontaneous
Common Name(s) TRPML3Va; Va;
Strain of Origin(C57BL x C57BR)F1
Gene Symbol and Name Mcoln3, mucolipin 3
Chromosome 3
Gene Common Name(s) 6720490O21Rik; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; varitint-waddler;
Molecular Note The mutation in the Va mouse is a G-to-C transversion at nucleotide 1255 within exon 10. This results in a change from alanine to proline at amino acid 419 which is in the fifth transmembrane domain. [MGI Ref ID J:80336]

Genotyping

Genotyping Information

Genotyping Protocols

mcolnVa, Pyrosequencing


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Di Palma F; Belyantseva IA; Kim HJ; Vogt TF; Kachar B; Noben-Trauth K. 2002. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A 99(23):14994-9. [PubMed: 12403827]  [MGI Ref ID J:80336]

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

Mcoln3Va related

Calderon A; Derr A; Stagner BB; Johnson KR; Martin G; Noben-Trauth K. 2006. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res 221(1-2):44-58. [PubMed: 16962269]  [MGI Ref ID J:113021]

Cloudman AM; Bunker LE. 1945. The varitint-waddler mouse. A dominant mutation in Mus musculus J Hered 36:258-263.  [MGI Ref ID J:13133]

Cools AR. 1972. Asymmetrical spotting and direction of circling in the varitint-waddler mouse. J Hered 63(4):167-71. [PubMed: 5075894]  [MGI Ref ID J:5297]

Deol MS. 1954. The anomalies of the labyrinth of the mutants varitint-waddler, shaker-2 and jerker in the mouse. J Genet 52:562-588.  [MGI Ref ID J:13046]

Di Palma F; Belyantseva IA; Kim HJ; Vogt TF; Kachar B; Noben-Trauth K. 2002. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A 99(23):14994-9. [PubMed: 12403827]  [MGI Ref ID J:80336]

Goswami C; Hucho T. 2008. Submembraneous microtubule cytoskeleton: biochemical and functional interplay of TRP channels with the cytoskeleton. FEBS J 275(19):4684-99. [PubMed: 18754773]  [MGI Ref ID J:142459]

Grimm C; Jors S; Heller S. 2009. Life and death of sensory hair cells expressing constitutively active TRPML3. J Biol Chem 284(20):13823-31. [PubMed: 19299509]  [MGI Ref ID J:149916]

KOCHER W. 1960. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus).] Z Vererbungsl 91:114-40. [PubMed: 13853422]  [MGI Ref ID J:15164]

Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje). J Assoc Res Otolaryngol 4(1):83-90. [PubMed: 12209292]  [MGI Ref ID J:78812]

Lane PW. 1972. Two new mutations in linkage group XVI of the house mouse. Flaky tail and varitint-waddler-J. J Hered 63(3):135-40. [PubMed: 4557539]  [MGI Ref ID J:5286]

Lane PW. 1969. Va<J> - varitint-waddler-Jackson Mouse News Lett 41:32.  [MGI Ref ID J:64107]

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]

Xu H; Delling M; Li L; Dong X; Clapham DE. 2007. Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice. Proc Natl Acad Sci U S A 104(46):18321-6. [PubMed: 17989217]  [MGI Ref ID J:127446]

van Buul PP; Tuinenburg-Bol Raap A; Goudzwaard HJ; Seelen CM; Beechey CV; Natarajan AT; Searle AG. 1991. Cytogenetic characterization of radiosensitive mouse mutants. Mutat Res 251(2):171-9. [PubMed: 1720867]  [MGI Ref ID J:4646]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


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

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. 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. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 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 View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. 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. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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