JAX
Mouse Strain Datasheet - 000296
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
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 hyp...
Read More +Genetic overview
| Genetic Background | Generation |
|---|---|
|
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Hoxa13Hd
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Hoxa13 | homeobox A13 |
Mcoln3Va-J
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Mcoln3 | mucolipin 3 |
a
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | a | nonagouti |
Research Applications
- Developmental Biology Research
- Dermatology Research
- Neurobiology Research
- Sensorineural Research
Detailed 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 Suggestions
Hoxa13Hd
Allele Symbol: Hoxa13Hd
| Allele Name | hypodactyly |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | Hd |
| Gene Symbol and Name | Hoxa13, homeobox A13 |
| Gene Synonym(s) | HOX1; HOX1J; Hd; Hox-1.10; Hox-1.10; RGD1562483; homeo box-1 cluster, gene 10; hypodactyly |
| Strain of Origin | MYA/Hu |
| Chromosome | 6 |
| 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. |
Mcoln3Va-J
Allele Symbol: Mcoln3Va-J
| Allele Name | varitint waddler Jackson |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | VaJ |
| Gene Symbol and Name | Mcoln3, mucolipin 3 |
| Gene Synonym(s) | 6720490O21Rik; 6720490O21Rik; RIKEN cDNA 6720490O21 gene; TRP-ML3; TRPML3; Va; Va; varitint-waddler; varitint-waddler |
| Strain of Origin | STOCK Mcoln3 |
| Chromosome | 3 |
| 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. |
a
Allele Symbol: a
| Allele Name | nonagouti |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | |
| Gene Symbol and Name | a, nonagouti |
| Gene Synonym(s) | AGSW; AGTI; AGTIL; ASP; As; As; SHEP9; agouti; agouti signal protein; agouti suppressor |
| Strain of Origin | old mutant of the mouse fancy |
| Chromosome | 2 |
| Molecular Note | Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Hoxa13Hd related
- Developmental Biology Research
- Skeletal Defects
- Oligodactyly
- Skeletal Defects
Genotype: Mcoln3Va-J related
- Dermatology Research
- Color and White Spotting Defects
- Neurobiology Research
- Hearing Defects
- Vestibular Defects
- Sensorineural Research
- Hearing Defects
- Vestibular Defects
Mammalian Phenotype Terms by Genotype
Genotype: Mcoln3Va-J/Mcoln3+
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
pigmentation phenotype
- belly spot
- heterozygotes express a small white ventral spot (MGI Ref ID J:78812)
- diluted coat color
- heterozygotes express a slightly diluted coat color which is less diluted than that of the original veritant waddler heterozygotes (MGI Ref ID J:78812)
- head spot
- some heterozygotes have a white forehead patch (MGI Ref ID J:78812)
hearing/vestibular/ear phenotype
- increased or absent threshold for auditory brainstem response
- at 2 weeks of age heterozygotes respond to 8- and 16-kHz stimuli only at sound pressure levels of 88 dB and 94 dB respectively, no response was found to click or 32 kHz stimuli, and at 3 weeks of age thresholds increased to >100 dB, which, although it is an early and rapidly progressing hearing loss, is a less severe phenotype than in mice heterozygous for the original veritant waddler mutationan early and rapidly progressing hearing loss, is a less severe phenotype than in mice heterozygous for the original veritant waddler mutation (MGI Ref ID J:78812)
integument phenotype
- belly spot
- heterozygotes express a small white ventral spot (MGI Ref ID J:78812)
- diluted coat color
- heterozygotes express a slightly diluted coat color which is less diluted than that of the original veritant waddler heterozygotes (MGI Ref ID J:78812)
- head spot
- some heterozygotes have a white forehead patch (MGI Ref ID J:78812)
Genotype: Mcoln3Va-J/Mcoln3Va-J
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
pigmentation phenotype
- mottled coat
- homozygotes are almost entirely variegated both ventrally and dorsally (MGI Ref ID J:78812)
integument phenotype
- mottled coat
- homozygotes are almost entirely variegated both ventrally and dorsally (MGI Ref ID J:78812)
Genotype: Hoxa13Hd/Hoxa13+
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
endocrine/exocrine gland phenotype
- abnormal ampullary gland morphology
- decrease in the number of duct tips in the ampullary gland (MGI Ref ID J:54823)
- abnormal branching involved in seminal vesicle morphogenesis
- little secondary and tertiary branching is observed (MGI Ref ID J:54823)
- abnormal prostate gland anterior lobe morphology
- 29% have one lobe of the coagulating gland duct that has a single main duct (MGI Ref ID J:54823)
- abnormal seminal vesicle morphology
- seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches (MGI Ref ID J:54823)
- decreased prostate gland duct number
- decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate (MGI Ref ID J:54823)
- small prostate gland
- 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate, and 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small prostate gland ventral lobe
- 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small seminal vesicle
- 86% have seminal vesicles that are two thirds the size of wild-type (MGI Ref ID J:54823)
reproductive system phenotype
- abnormal ampullary gland morphology
- decrease in the number of duct tips in the ampullary gland (MGI Ref ID J:54823)
- abnormal branching involved in seminal vesicle morphogenesis
- little secondary and tertiary branching is observed (MGI Ref ID J:54823)
- abnormal prostate gland anterior lobe morphology
- 29% have one lobe of the coagulating gland duct that has a single main duct (MGI Ref ID J:54823)
- abnormal seminal vesicle morphology
- seminal vesicles have an altered curvature and spiked clefting and lack the secondary and tertiary branches (MGI Ref ID J:54823)
- abnormal uterine cervix morphology
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype (MGI Ref ID J:58731)
- decreased prostate gland duct number
- decrease in the number of duct tips in the dorsal and lateral divisions of the dorsolateral prostate and the ventral prostate (MGI Ref ID J:54823)
- small prostate gland
- 57% have a smaller dorsal prostate, 43% have a smaller lateral prostate, and 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small prostate gland ventral lobe
- 43% have a smaller ventral prostate (MGI Ref ID J:54823)
- small seminal vesicle
- 86% have seminal vesicles that are two thirds the size of wild-type (MGI Ref ID J:54823)
Genotype: Hoxa13Hd/Hoxa13Hd
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
digestive/alimentary phenotype
- intestinal obstruction
- 2 of 3 males exhibit bowel obstructions (MGI Ref ID J:58731)
- short perineum
- 5 of 6 females exhibit a reduced ano-vaginal distance (MGI Ref ID J:58731)
renal/urinary system phenotype
- abnormal female urethra morphology
- urethra is abnormally located within the serosal layer in females (MGI Ref ID J:58731)
- abnormal penile bone morphology
- the proximal part of the penial bone is mishapen (MGI Ref ID J:58731)
- abnormal renal/urinary system morphology
- one third of females exhibit urinary tract defects (MGI Ref ID J:58731)
- absent urinary bladder
- 1 of 18 females lack a bladder (MGI Ref ID J:58731)
- kidney cysts
- 3 of 18 females exhibit cystic kidneys (MGI Ref ID J:58731)
- renal hypoplasia
- 1 of 18 females exhibt a hypoplastic kidney (MGI Ref ID J:58731)
- small penile bone
- the proximal part of the penial bone is smaller (MGI Ref ID J:58731)
- urinary bladder cysts
- 2 of 3 males exhibit cystic bladders (MGI Ref ID J:58731)
- urinary bladder hypoplasia
- 1 of 3 males exhibit a hypoplastic bladder (MGI Ref ID J:58731)
- vesicovaginal fistula
- 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity (MGI Ref ID J:58731)
reproductive system phenotype
- abnormal penile bone morphology
- the proximal part of the penial bone is mishapen (MGI Ref ID J:58731)
- abnormal uterine cervix morphology
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype (MGI Ref ID J:58731)
- stromal tissue surrounding the cervical canals is smaller and the cervical canal is greatly reduced in size (MGI Ref ID J:58731)
- the columnar-to-squamosal epithelial transition that characterizes mature cervical-vaginal tissue is positioned within uterine-like stroma rather than cervical tissue (MGI Ref ID J:58731)
- dilated uterine horn
- 5 of 18 females exhibit enlarged, fluid-filled uterine horns (MGI Ref ID J:58731)
- female infertility
- (MGI Ref ID J:58731)
- male infertility
- (MGI Ref ID J:58731)
- short perineum
- 5 of 6 females exhibit a reduced ano-vaginal distance (MGI Ref ID J:58731)
- small penile bone
- the proximal part of the penial bone is smaller (MGI Ref ID J:58731)
- small vagina
- profoundly small vaginal cavity (MGI Ref ID J:58731)
- uterine cervix hypoplasia
- cervix is hypoplastic (MGI Ref ID J:58731)
- vesicovaginal fistula
- 1 of 18 females exhibit an abnormal fistula connecting the bladder and vaginal cavity (MGI Ref ID J:58731)
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Mcoln3Va-J/Mcoln3+
Not Specified
hearing/vestibular/ear phenotype
- deafness
- (MGI Ref ID J:5286)
behavior/neurological phenotype
- behavior/neurological phenotype
- behave normally unlike Mcoln3Va (MGI Ref ID J:64107)
pigmentation phenotype
- abnormal foot pigmentation
- white feet (MGI Ref ID J:5286)
- belly spot
- mice exhibit a large, irregular belly spot (MGI Ref ID J:5286)
- diluted coat color
- (MGI Ref ID J:5286)
- non-pigmented tail tip
- (MGI Ref ID J:5286)
- variegated coat color
limbs/digits/tail phenotype
- non-pigmented tail tip
- (MGI Ref ID J:5286)
integument phenotype
- abnormal foot pigmentation
- white feet (MGI Ref ID J:5286)
- belly spot
- mice exhibit a large, irregular belly spot (MGI Ref ID J:5286)
- diluted coat color
- (MGI Ref ID J:5286)
- non-pigmented tail tip
- (MGI Ref ID J:5286)
Genotype: Mcoln3Va-J/Mcoln3Va-J
Not Specified
hearing/vestibular/ear phenotype
- deafness
- (MGI Ref ID J:5286)
behavior/neurological phenotype
- behavior/neurological phenotype
pigmentation phenotype
- diluted coat color
- (MGI Ref ID J:5286)
- variegated coat color
- mostly white with patches of dilute color (MGI Ref ID J:64107)
- white spotting
- (MGI Ref ID J:5286)
integument phenotype
- diluted coat color
- (MGI Ref ID J:5286)
- variegated coat color
- mostly white with patches of dilute color (MGI Ref ID J:64107)
- white spotting
- (MGI Ref ID J:5286)
Genotype: Mcoln3Va-J/Mcoln3Va-J
B6.Cg-Mcoln3Va-J
mortality/aging
- prenatal lethality, incomplete penetrance
- Background Sensitivity - at backcross generation N6 to C57BL/6J intercrossing heterozygotes yields only 8% homozygous offspring (MGI Ref ID J:78812)
Genotype: Mcoln3Va-J/?
involves: A/J * C57BL/6J
hearing/vestibular/ear phenotype
- increased or absent threshold for auditory brainstem response
- at 12 weeks of age F2 progeny of a cross to A/J fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype (MGI Ref ID J:78812)
Genotype: Mcoln3Va-J/?
involves: BALB/cByJ * C57BL/6J
hearing/vestibular/ear phenotype
- increased or absent threshold for auditory brainstem response
- at 12 weeks of age F2 progeny of a cross to BALB/cByJ fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype (MGI Ref ID J:78812)
Genotype: Mcoln3Va-J/?
involves: C3HeB/FeJLe * C57BL/6J
hearing/vestibular/ear phenotype
- increased or absent threshold for auditory brainstem response
- at 12 weeks of age F2 progeny of a cross to C3HeB/FeJLe fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype (MGI Ref ID J:78812)
Genotype: Mcoln3Va-J/?
involves: C57BL/6J * CZECHII/EiJ
hearing/vestibular/ear phenotype
- increased or absent threshold for auditory brainstem response
- at 12 weeks of age F2 progeny of a cross to CZECHII/EiJ fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype (MGI Ref ID J:78812)
Genotype: Mcoln3Va-J/?
involves: C57BL/6J * DBA/2J
hearing/vestibular/ear phenotype
- increased or absent threshold for auditory brainstem response
- at 12 weeks of age F2 progeny of a cross to DBA/2J fail to respond to a 16 kHz stimulus at >100 dB, indicating that there are no background modifiers ameliorating this phenotype (MGI Ref ID J:78812)
References
Additional References
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- Lane PW. 1972. Two new mutations in linkage group XVI of the house mouse. Flaky tail and varitint-waddler-J.. In: . . MGI: J:5286
Additional - a related
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Additional - Hoxa13Hd related
- Akiyama 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.. In: . . MGI: J:121946
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- Podlasek CA; Clemens JQ; Bushman W. 1999. Hoxa-13 gene mutation results in abnormal seminal vesicle and prostate development.. In: . . MGI: J:54823
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- Post LC; Innis JW. 1999. Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures.. In: . . MGI: J:58731
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Additional - Mcoln3Va-J related
- Cable J; Steel KP. 1998. Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse.. In: . . MGI: 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.. In: . . MGI: J:132913
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- Goswami C; Hucho T. 2008. Submembraneous microtubule cytoskeleton: biochemical and functional interplay of TRP channels with the cytoskeleton.. In: . . MGI: J:142459
- 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.. In: . . MGI: J:128490
- Kim HJ; Jackson T; Noben-Trauth K. 2003. Genetic analyses of the mouse deafness mutations varitint-waddler (va) and jerker (espnje).. In: . . MGI: J:78812
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- Lane PW. 1972. Two new mutations in linkage group XVI of the house mouse. Flaky tail and varitint-waddler-J.. In: . . MGI: J:5286
- 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.. In: . . MGI: 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: J:78801
- van Aken AF; Atiba-Davies M; Marcotti W; Goodyear RJ; Bryant JE; Richardson GP; Noben-Trauth K; Kros CJ. 2008. TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice.. In: . . MGI: J:176565