Strain Name:

C57BL/6J-Mcoln3Va/J

Stock Number:

000071

Availability:

Repository-Cryopreserved

Description

Strain Information

Former Names C57BL/6J-Va    (Changed: 15-DEC-04 )
Type Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered Mutant Mice.
Specieslaboratory mouse
GenerationN67p

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.

Related Strains

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

Strains carrying other alleles of Mcoln3
000126   B6By.Cg-Sd 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
      assigned by genotype

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

Mcoln3Va/Mcoln3+

        involves: C57BL * C57BR
  • hearing/vestibular/ear phenotype
  • circling (MGI Ref ID J:13133)
    • mixed circling habits are present as early as 14 days after birth
  • deafness (MGI Ref ID J:13133)
  • head tossing (MGI Ref ID J:13133)
    • choreic head movements
  • behavior/neurological phenotype
  • abnormal locomotor coordination (MGI Ref ID J:13133)
    • waddling "duck like" walk
  • abnormal maternal nurturing (MGI Ref ID J:13133)
    • neglect their young and trample pups
  • circling (MGI Ref ID J:13133)
    • mixed circling habits are present as early as 14 days after birth
  • head tossing (MGI Ref ID J:13133)
    • choreic head movements
  • hyperactivity (MGI Ref ID J:13133)
    • usually in motion when not asleep, nodding and tossing their heads
  • jumpy (MGI Ref ID J:13133)
    • in reaction to sudden jarring
  • tonic seizures (MGI Ref ID J:13133)
    • a convulsive stiffening of the body in reaction ot sudden jarring
  • nervous system phenotype
  • tonic seizures (MGI Ref ID J:13133)
    • a convulsive stiffening of the body in reaction ot sudden jarring
  • pigmentation phenotype
  • variegated coat color (MGI Ref ID J:13133)
    • with patches of normal-colored, diluted, and white fur
  • skin/coat/nails phenotype
  • variegated coat color (MGI Ref ID J:13133)
    • with patches of normal-colored, diluted, and white fur
  • reproductive system phenotype
  • reduced fertility (MGI Ref ID J:13133)
    • some of the heterozygous mice, especially the males are sterile

Mcoln3Va/Mcoln3+

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

Mcoln3Va/Mcoln3Va

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

Mcoln3Va/Mcoln3Va

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

Sensorineural Research
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

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; FLJ11006; FLJ36629; MGC71509; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; varitint-waddler;
General Note This mutation was found among descendants of a cross of C57BL x C57BR strains. Viability of heterozygotes is nearly normal, but fertility is reduced. Mortality is very high in homozygotes, and very few of the survivors are fertile. Heterozygotes are deaf and show circling behavior, head-tossing, and hyperactivity. They 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 behavioralabnormalities than heterozygotes, and their coats are white, except for small patches of unaltered color near the ears and base of the tail (J:13133). 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 (J:13046). In heterozygotes, in addition to the characteristic shaker-waltzer behavior, a number of behavioral defects involving reflexes and locomotor patterns and said to be characteristic of defects of the corpus striatum have been described (J:5297). In the same study a close correlation was found between direction of lateralityof circling and asymmetry of distribution of the wild-type patches of fur.
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

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

Helpful Links

Optimizing PCR Protocols

References

References

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]

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

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Price*
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price*
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

Additional Supply Details

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845.

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

General Terms and Conditions


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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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