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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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 Hoxa13Hd McolnVa-J (Changed: 15-DEC-04 ) B6C3Fe-a/a-Hoxa13Hd McolnVa-J (Changed: 15-DEC-04 ) B6C3Fe-a/a-Hoxa13Hd VaJ (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 N53p Appearance
Hoxa13Hd: black, toe defects to hindfeet
Related Genotype: a/a Hoxa13Hd/+ +/+
Mcoln3Va-J: slightly diluted black with spotting on belly or head, ataxic
Related Genotype: Mcoln3Va-J/+ +/+
Mcoln3Va-J: agouti, unaffected
Related Genotype: A/A +/+ +/+
Hoxa13Hd: black unaffected
Related Genotype: a/a +/+ +/+Description
Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3Va) and behave normally although they are deaf. They have slightly diluted coat color, a large irregular belly spot, and white feet and tail tip. Homozygous mutant mice have extensive white spotting interspersed with patches of diluted color. They are deaf but behave normally and are fertile. Compound heterozygotes of 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. This strain is also carrying the semidominant hypodactyly spontaneous mutation (Hoxa13Hd). Heterozygous hypodactyly mutant mice are viable and fertile. Heterozygotes are missing the terminal phalanx of the first digit of the hindfoot and show variable penetrance for shortening or missing first phalanx. The forefeet are normal. Homozygous mutant mice have a single digit on each foot and greatly reduced carpals, metacarpals, tarsals, and metatarsals. The surviving digit is probably the fifth. Most homozygotes die before birth, but a few have survived to maturity but are sterile.Development
The mutation hypodactyly (Hoxa13Hd) arose spontaneously in strain MYA/Hu of Dr. K. P. Hummel at The Jackson Laboratory in approximately 1965. It was backcrossed onto a hybrid of C3HeB/Hu x DBAfB/Hu for 5 generations before being backcrossed onto C57BL/6J for 7 generations. The mutation Mcoln3Va-J arose spontaneously in a chromosome 3 linkage testing stock and was backcrossed onto C57BL/6J for 10 generations before crossing to C57BL/6J-Hoxa13Hd/+ at N7. This Hoxa13Hd Mcoln3Va-J stock was sibling bred for 2 generations and backcrossed once to C57BL/6J and then crossed to the B6C3Fe-a/a F1 hybrid and maintained by continued crosses to this hybrid. In 1987 B6C3F1-a/a F1 females were bred with Hoxa13Hd Mcoln3Va-J/+ + males at N5F2 to generate embryos for cryopreservation.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Mcoln3Va-J allele
000126 B6By.Cg-Sd Mcoln3Va-J Krt25Re/J View Strains carrying Mcoln3Va-J (1 strain)
000071 C57BL/6J-Mcoln3Va/J 000268 RSV/LeJ
Phenotype
Phenotype Information
Hand-Foot-Uterus Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
assigned by genotype
Hoxa13Hd/Hoxa13+
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
- endocrine/exocrine gland phenotype
- abnormal sex gland morphology (MGI Ref ID J:54823)
- decrease in the number of duct tips in the ampullary gland
- abnormal prostate gland anterior lobe morphology (MGI Ref ID J:54823)
- 29% have one lobe of the coagulating gland duct that has a single main duct
- abnormal seminal vesicle morphology (MGI Ref ID J:54823)
- seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches
- small seminal vesicle (MGI Ref ID J:54823)
- 86% have seminal vesicles that are two thirds the size of wild-type
- decreased prostate duct number (MGI Ref ID J:54823)
- decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate
- small prostate gland (MGI Ref ID J:54823)
- 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate, and 43% have a smaller ventral prostate
- small prostate gland ventral lobe (MGI Ref ID J:54823)
- 43% have a smaller ventral prostate
- reproductive system phenotype
- abnormal cervix morphology (MGI Ref ID J:58731)
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype
- abnormal sex gland morphology (MGI Ref ID J:54823)
- decrease in the number of duct tips in the ampullary gland
- abnormal prostate gland anterior lobe morphology (MGI Ref ID J:54823)
- 29% have one lobe of the coagulating gland duct that has a single main duct
- abnormal seminal vesicle morphology (MGI Ref ID J:54823)
- seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches
- small seminal vesicle (MGI Ref ID J:54823)
- 86% have seminal vesicles that are two thirds the size of wild-type
- decreased prostate duct number (MGI Ref ID J:54823)
- decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate
- small prostate gland (MGI Ref ID J:54823)
- 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate, and 43% have a smaller ventral prostate
- small prostate gland ventral lobe (MGI Ref ID J:54823)
- 43% have a smaller ventral prostate
Hoxa13Hd/Hoxa13Hd
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
- digestive/alimentary phenotype
- intestinal obstruction (MGI Ref ID J:58731)
- 2 of 3 males exhibit bowel obstructions
- short perineum (MGI Ref ID J:58731)
- 5 of 6 females exhibit a reduced ano-vaginal distance
- renal/urinary system phenotype
- abnormal urinary system morphology (MGI Ref ID J:58731)
- one third of females exhibit urinary tract defects
- abnormal penile bone morphology (MGI Ref ID J:58731)
- the proximal part of the penial bone is mishapen
- small penile bone (MGI Ref ID J:58731)
- the proximal part of the penial bone is smaller
- abnormal urethra morphology (MGI Ref ID J:58731)
- urethra is abnormally located within the serosal layer in females
- urethrovaginal fistula (MGI Ref ID J:58731)
- 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity
- abnormal urinary bladder morphology (MGI Ref ID J:58731)
- 2 of 3 males exhibit cystic bladders
- absent urinary bladder (MGI Ref ID J:58731)
- 1 of 18 females lack a bladder
- urinary bladder hypoplasia (MGI Ref ID J:58731)
- 1 of 3 males exhibit a hypoplastic bladder
- kidney cysts (MGI Ref ID J:58731)
- 3 of 18 females exhibit cystic kidneys
- renal hypoplasia (MGI Ref ID J:58731)
- 1 of 18 females exhibt a hypoplastic kidney
- reproductive system phenotype
- abnormal cervix morphology (MGI Ref ID J:58731)
- stromal tissue surrounding the cervical canals is smaller and the cervical canal is greatly reduced in size
- the columnar-to-squamosal epithelial transition that characterizes mature cervical-vaginal tissue is positioned within uterine-like stroma rather than cervical tissue
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype
- cervix hypoplasia (MGI Ref ID J:58731)
- cervix is hypoplastic
- abnormal penile bone morphology (MGI Ref ID J:58731)
- the proximal part of the penial bone is mishapen
- small penile bone (MGI Ref ID J:58731)
- the proximal part of the penial bone is smaller
- dilated uterine horn (MGI Ref ID J:58731)
- 5 of 18 females exhibit enlarged, fluid-filled uterine horns
- female infertility (MGI Ref ID J:58731)
- male infertility (MGI Ref ID J:58731)
- short perineum (MGI Ref ID J:58731)
- 5 of 6 females exhibit a reduced ano-vaginal distance
- small vagina (MGI Ref ID J:58731)
- profoundly small vaginal cavity
- urethrovaginal fistula (MGI Ref ID J:58731)
- 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Mcoln3Va-J/Mcoln3+
Background Not Specified
- hearing/vestibular/ear phenotype
- deafness (MGI Ref ID J:5286)
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype (MGI Ref ID J:64107)
- behave normally unlike Mcoln3Va
- pigmentation phenotype
- abnormal skin pigmentation (MGI Ref ID J:5286)
- white feet
- non-pigmented tail tip (MGI Ref ID J:5286)
- belly spot (MGI Ref ID J:5286)
- mice exhibit a large, irregular belly spot
- diluted coat color (MGI Ref ID J:5286)
- variegated coat color (MGI Ref ID J:64107)
- a slightly dilute coat color, large irregular belly spots and white feet and tail tips
- not as varicolored as unlike Mcoln3Va
- skin/coat/nails phenotype
- abnormal skin pigmentation (MGI Ref ID J:5286)
- white feet
- non-pigmented tail tip (MGI Ref ID J:5286)
- belly spot (MGI Ref ID J:5286)
- mice exhibit a large, irregular belly spot
- diluted coat color (MGI Ref ID J:5286)
- variegated coat color (MGI Ref ID J:64107)
- a slightly dilute coat color, large irregular belly spots and white feet and tail tips
- not as varicolored as unlike Mcoln3Va
- limbs/digits/tail phenotype
- non-pigmented tail tip (MGI Ref ID J:5286)
Mcoln3Va-J/Mcoln3+
involves: C3HeB/FeJLe * C57BL/6J
- hearing/vestibular/ear phenotype
- decreased brainstem auditory evoked potential (MGI Ref ID J:78812)
Mcoln3Va-J/Mcoln3Va-J
Background Not Specified
- hearing/vestibular/ear phenotype
- deafness (MGI Ref ID J:5286)
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype (MGI Ref ID J:64107)
- both sexes are fertile and do not have the abnormal behavior of Mcoln3Va
- able to swim
- mice swim and behave normally
- pigmentation phenotype
- diluted coat color (MGI Ref ID J:5286)
- variegated coat color (MGI Ref ID J:64107)
- mostly white with patches of dilute color
- white spotting (MGI Ref ID J:5286)
- skin/coat/nails phenotype
- diluted coat color (MGI Ref ID J:5286)
- variegated coat color (MGI Ref ID J:64107)
- mostly white with patches of dilute color
- white spotting (MGI Ref ID J:5286)
Mcoln3Va-J/Mcoln3Va-J
B6.Cg-Mcoln3Va-J
- lethality-prenatal/perinatal
- prenatal lethality (MGI Ref ID J:78812)
- at backcross generation N6 to C57BL/6J intercrossing heterozygotes yields only 8% homozygotous offspring
Mcoln3Va-J/Mcoln3Va-J
involves: C3HeB/FeJLe * C57BL/6J
- hearing/vestibular/ear phenotype
- decreased brainstem auditory evoked potential (MGI Ref ID J:78812)
This mouse can be used to support research in many areas including:Hoxa13Hd related
Mcoln3Va-J relatedDevelopmental Biology Research
Skeletal Defects
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 | Hoxa13Hd | ||
|---|---|---|---|
| Allele Name | hypodactyly | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Hd; | ||
| Strain of Origin | MYA/Hu | ||
| Gene Symbol and Name | Hoxa13, homeo box A13 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | HOX1; HOX1J; Hd; Hox-1.10; RGD1562483; homeo box-1 cluster, gene 10; hypodactyly; | ||
| General Note |
A double mutant of the hydrocephalic-polydactyly mutation, hophpy, and the hypodactyly mutation, Hoxa13Hd, produced offspring of normal hallux phenotype. The first mutant tends to multiply, the second to eliminate halluces, and the two cancel each other (J:23839). | ||
| Molecular Note | A 50-base pair deletion in the first exon of the Hd allele that probably arose from unequal recombination or misalignment between triplet repeats. [MGI Ref ID J:33715] | ||
| Allele Symbol | Mcoln3Va-J | ||
| Allele Name | varitint waddler Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | VaJ; | ||
| Strain of Origin | STOCK Mcoln3 | ||
| 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 in a linkage cross involving Mcoln3Va, and probably arose by mutation from Mcoln3Va. (J:5286) | ||
| Molecular Note | This allele has a T-to-C transition at nucleotide 1085 within exon 8. This results in a change from isoleucine to threonine at amino acid 362 in the second extracellular loop. The Mcoln3Va-J allele, which arose on a strain segregating for the more severe Mcoln3Va allele, also has the G-to-C transversion at nucleotide 1255 specific to the Mcoln3Va allele indicating that the Mcoln3Va-J allele contains an additional point mutation to the Mcoln3Va allele. The less severe phenotype of the Mcoln3Va-J allele suggests that the T-to-C transition at nucleotide 1085 might mitigate the effects of the G-to-C mutation at nucleotide 1255 although the impact of genetic background must be considered. The encoded protein can be detected in the hair cells of heterozygous and homozygous mice. [MGI Ref ID J:80336] | ||
| 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
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]
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]
Hoxa13Hd relatedMcoln3Va-J relatedAkiyama H; Stadler HS; Martin JF; Ishii TM; Beachy PA; Nakamura T; de Crombrugghe B. 2007. Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice. Matrix Biol 26(4):224-33. [PubMed: 17222543] [MGI Ref ID J:121946]
Hummel KP. 1970. Hypodactyly, a semidominant lethal mutation in mice. J Hered 61(5):219-20. [PubMed: 5519671] [MGI Ref ID J:5211]
Hummel KP; Chapman DB. 1966. Hd - hypodactyly Mouse News Lett 34:31. [MGI Ref ID J:64253]
Kondo T; Zakany J; Innis JW; Duboule D. 1997. Of fingers, toes and penises. Nature 390(6655):29. [PubMed: 9363887] [MGI Ref ID J:111118]
Mortlock DP; Post LC; Innis JW. 1996. The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. Nat Genet 13(3):284-9. [PubMed: 8673126] [MGI Ref ID J:33715]
Podlasek CA; Clemens JQ; Bushman W. 1999. Hoxa-13 gene mutation results in abnormal seminal vesicle and prostate development. J Urol 161(5):1655-61. [PubMed: 10210434] [MGI Ref ID J:54823]
Post LC; Innis JW. 1999. Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice. Int J Dev Biol 43(4):287-94. [PubMed: 10470645] [MGI Ref ID J:56986]
Post LC; Innis JW. 1999. Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures. Biol Reprod 61(6):1402-8. [PubMed: 10569982] [MGI Ref ID J:58731]
Post LC; Margulies EH; Kuo A; Innis JW. 2000. Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein. Dev Biol 217(2):290-300. [PubMed: 10625554] [MGI Ref ID J:59926]
Robertson KE; Chapman MH; Adams A; Tickle C; Darling SM. 1996. Cellular analysis of limb development in the mouse mutant hypodactyly. Dev Genet 19(1):9-25. [PubMed: 8792605] [MGI Ref ID J:35173]
Robertson KE; Tickle C; Darling SM. 1997. Shh, Fgf4 and Hoxd gene expression in the mouse limb mutant hypodactyly. Int J Dev Biol 41(5):733-6. [PubMed: 9415493] [MGI Ref ID J:46340]
Cable J; Steel KP. 1998. Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse. Hear Res 123(1-2):125-36. [PubMed: 9745961] [MGI Ref ID J:49944]
Cabraja M; Baurle J. 2007. Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression. J Comp Neurol 504(4):418-26. [PubMed: 17663432] [MGI Ref ID J:132913]
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]
Grimm C; Cuajungco MP; van Aken AF; Schnee M; Jors S; Kros CJ; Ricci AJ; Heller S. 2007. A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse. Proc Natl Acad Sci U S A 104(49):19583-8. [PubMed: 18048323] [MGI Ref ID J:128490]
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]
Nagata K; Zheng L; Madathany T; Castiglioni AJ; Bartles JR; Garcia-Anoveros J. 2008. The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration. Proc Natl Acad Sci U S A 105(1):353-8. [PubMed: 18162548] [MGI Ref ID J:131070]
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]
Health & husbandry
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.
Health & Colony Maintenance Information
Colony Maintenance
Breeding & Husbandry McolnVa-J and Hoxa13Hd are on separate chromosomes and assort independently. The mice distributed are heterozygous carriers for either one or the other mutation, but not both.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
|
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
| Pricing for International shipping destinations |
|
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. |
|---|---|
| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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.Ordering and Purchasing Information
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