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- Description
- Disease & phenotype
- Genes & alleles
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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
Generation DefinitionsAppearance
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 B6.Cg-Mcoln3Va/J 000268 RSV/LeJ
Phenotype
Phenotype Information
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Hand-Foot-Uterus Syndrome
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias (HOXA13)
Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
assigned by 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 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)
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)
Hoxa13Hd/Hoxa13+
B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
- endocrine/exocrine gland phenotype
- abnormal sex gland morphology
- decrease in the number of duct tips in the ampullary gland (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)
- small seminal vesicle
- 86% have seminal vesicles that are two thirds the size of wild-type (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)
- reproductive system phenotype
- abnormal cervix morphology
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype (MGI Ref ID J:58731)
- abnormal sex gland morphology
- decrease in the number of duct tips in the ampullary gland (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)
- small seminal vesicle
- 86% have seminal vesicles that are two thirds the size of wild-type (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)
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 renal/urinary system morphology
- one third of females exhibit urinary tract defects (MGI Ref ID J:58731)
- 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)
- small penile bone
- the proximal part of the penial bone is smaller (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)
- 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 cervix morphology
- 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)
- exhibit an anterior transformation of cervical tissue to a uterine stromal phenotype (MGI Ref ID J:58731)
- cervix hypoplasia
- cervix is hypoplastic (MGI Ref ID J:58731)
- abnormal penile bone morphology
- the proximal part of the penial bone is mishapen (MGI Ref ID J:58731)
- small penile bone
- the proximal part of the penial bone is smaller (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 vagina
- profoundly small vaginal cavity (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 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
- 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)
- variegated coat color
Mcoln3Va-J/Mcoln3Va-J
Background Not Specified
- hearing/vestibular/ear phenotype
- deafness (MGI Ref ID J:5286)
- behavior/neurological phenotype
- *normal* 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)
Mcoln3Va-J/Mcoln3Va-J
B6.Cg-Mcoln3Va-J
- mortality/aging
- partial prenatal lethality
- at backcross generation N6 to C57BL/6J intercrossing heterozygotes yields only 8% homozygous offspring (MGI Ref ID J:78812)
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)
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)
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)
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)
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)
This mouse can be used to support research in many areas including:Hoxa13Hd related
Mcoln3Va-J relatedDevelopmental Biology Research
Skeletal Defects
Oligodactyly
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 | Hoxa13Hd | ||
|---|---|---|---|
| Allele Name | hypodactyly | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Hd; | ||
| Strain of Origin | MYA/Hu | ||
| Gene Symbol and Name | Hoxa13, homeobox 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; 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 | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| 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. [MGI Ref ID J:16984] [MGI Ref ID J:24934] | ||
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]
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]
a relatedCable 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]
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; 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]
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. J Physiol 586(Pt 22):5403-18. [PubMed: 18801844] [MGI Ref ID J:176565]
Baba K; Sakakibara S; Setsu T; Terashima T. 2007. The superficial layers of the superior colliculus are cytoarchitectually and myeloarchitectually disorganized in the reelin-deficient mouse, reeler. Brain Res 1140:205-15. [PubMed: 17173877] [MGI Ref ID J:120267]
Batchelor AL; Phillips RJ; Searle AG. 1966. A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res 3(3):218-29. [PubMed: 5962396] [MGI Ref ID J:5021]
Bjorbaek C; Elmquist JK; Frantz JD; Shoelson SE; Flier JS. 1998. Identification of SOCS-3 as a potential mediator of central leptin resistance. Mol Cell 1(4):619-25. [PubMed: 9660946] [MGI Ref ID J:119803]
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]
Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. [PubMed: 1473152] [MGI Ref ID J:3523]
Bultman SJ; Russell LB; Gutierrez-Espeleta GA; Woychik RP. 1991. Molecular characterization of a region of DNA associated with mutations at the agouti locus in the mouse. Proc Natl Acad Sci U S A 88(18):8062-6. [PubMed: 1896452] [MGI Ref ID J:16567]
Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. [PubMed: 3227730] [MGI Ref ID J:16568]
Butler AE; Janson J; Soeller WC; Butler PC. 2003. Increased beta-cell apoptosis prevents adaptive increase in beta-cell mass in mouse model of type 2 diabetes: evidence for role of islet amyloid formation rather than direct action of amyloid. Diabetes 52(9):2304-14. [PubMed: 12941770] [MGI Ref ID J:132530]
Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379] [MGI Ref ID J:160128]
Cropley JE; Suter CM; Beckman KB; Martin DI. 2006. Germ-line epigenetic modification of the murine A vy allele by nutritional supplementation. Proc Natl Acad Sci U S A 103(46):17308-12. [PubMed: 17101998] [MGI Ref ID J:117156]
De Souza J; Butler AA; Cone RD. 2000. Disproportionate inhibition of feeding in A(y) mice by certain stressors: a cautionary note. Neuroendocrinology 72(2):126-32. [PubMed: 10971147] [MGI Ref ID J:102986]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
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Dunn LC. 1945. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A 31(11):343-6. [PubMed: 16578176] [MGI Ref ID J:13122]
Dunn LC; Macdowell EC; Lebedeff GA. 1937. Studies on Spotting Patterns III. Interaction between Genes Affecting White Spotting and Those Affecting Color in the House Mouse. Genetics 22(2):307-18. [PubMed: 17246842] [MGI Ref ID J:12954]
Enshell-Seijffers D; Lindon C; Morgan BA. 2008. The serine protease Corin is a novel modifier of the Agouti pathway. Development 135(2):217-25. [PubMed: 18057101] [MGI Ref ID J:130426]
Feuerer M; Herrero L; Cipolletta D; Naaz A; Wong J; Nayer A; Lee J; Goldfine AB; Benoist C; Shoelson S; Mathis D. 2009. Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters. Nat Med 15(8):930-9. [PubMed: 19633656] [MGI Ref ID J:152186]
Fujimoto W; Shiuchi T; Miki T; Minokoshi Y; Takahashi Y; Takeuchi A; Kimura K; Saito M; Iwanaga T; Seino S. 2007. Dmbx1 is essential in agouti-related protein action. Proc Natl Acad Sci U S A 104(39):15514-9. [PubMed: 17873059] [MGI Ref ID J:125193]
Gajewska M; Krysiak E; Wirth-Dziecialowska E. 2010. New coat color mutation mapped in distal part MMU10 MGI Direct Data Submission :. [MGI Ref ID J:162146]
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Galbraith DB; Patrignani AM. 1976. Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice. Genetics 84(3):587-91. [PubMed: 1001879] [MGI Ref ID J:5737]
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]
Galbraith DB; Wolff GL; Brewer NL. 1979. Tissue microenvironment and the genetic control of hair pigment patterns in mice Dev Genet 1(2):167-179. [MGI Ref ID J:156092]
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Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194] [MGI Ref ID J:32132]
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Heaney JD; Michelson MV; Youngren KK; Lam MY; Nadeau JH. 2009. Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice. Hum Mol Genet 18(8):1395-404. [PubMed: 19168544] [MGI Ref ID J:146879]
Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048] [MGI Ref ID J:5346]
Hustad CM; Perry WL; Siracusa LD; Rasberry C; Cobb L; Cattanach BM; Kovatch R; Copeland NG; Jenkins NA. 1995. Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus. Genetics 140(1):255-65. [PubMed: 7635290] [MGI Ref ID J:24934]
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Kaelin CB; Xu X; Hong LZ; David VA; McGowan KA; Schmidt-Kuntzel A; Roelke ME; Pino J; Pontius J; Cooper GM; Manuel H; Swanson WF; Marker L; Harper CK; van Dyk A; Yue B; Mullikin JC; Warren WC; Eizirik E; Kos L; O'Brien SJ; Barsh GS; Menotti-Raymond M. 2012. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science 337(6101):1536-41. [PubMed: 22997338] [MGI Ref ID J:188277]
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Martin NM; Houston PA; Patterson M; Sajedi A; Carmignac DF; Ghatei MA; Bloom SR; Small CJ. 2006. Abnormalities of the somatotrophic axis in the obese agouti mouse. Int J Obes (Lond) 30(3):430-8. [PubMed: 16172617] [MGI Ref ID J:151302]
Martinez HG; Quinones MP; Jimenez F; Estrada CA; Clark K; Muscogiuri G; Sorice G; Musi N; Reddick RL; Ahuja SS. 2011. Critical role of chemokine (C-C motif) receptor 2 (CCR2) in the KKAy + Apoe -/- mouse model of the metabolic syndrome. Diabetologia 54(10):2660-8. [PubMed: 21779871] [MGI Ref ID J:177084]
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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]
Miyazaki M; Sampath H; Liu X; Flowers MT; Chu K; Dobrzyn A; Ntambi JM. 2009. Stearoyl-CoA desaturase-1 deficiency attenuates obesity and insulin resistance in leptin-resistant obese mice. Biochem Biophys Res Commun 380(4):818-22. [PubMed: 19338759] [MGI Ref ID J:147343]
Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102] [MGI Ref ID J:52183]
Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821] [MGI Ref ID J:29467]
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Novak EK; Wieland F; Jahreis GP; Swank RT. 1980. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet 18(5-6):549-61. [PubMed: 6776948] [MGI Ref ID J:6422]
Nuotio-Antar AM; Hachey DL; Hasty AH. 2007. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice. Am J Physiol Endocrinol Metab 293(6):E1517-28. [PubMed: 17878220] [MGI Ref ID J:145108]
Pettitt SJ; Liang Q; Rairdan XY; Moran JL; Prosser HM; Beier DR; Lloyd KC; Bradley A; Skarnes WC. 2009. Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods :. [PubMed: 19525957] [MGI Ref ID J:149352]
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Rice RH; Bradshaw KM; Durbin-Johnson BP; Rocke DM; Eigenheer RA; Phinney BS; Sundberg JP. 2012. Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics. PLoS One 7(12):e51956. [PubMed: 23251662] [MGI Ref ID J:195664]
Rosenfeld CS; Sieli PT; Warzak DA; Ellersieck MR; Pennington KA; Roberts RM. 2013. Maternal exposure to bisphenol A and genistein has minimal effect on A(vy)/a offspring coat color but favors birth of agouti over nonagouti mice. Proc Natl Acad Sci U S A 110(2):537-42. [PubMed: 23267115] [MGI Ref ID J:193279]
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Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308] [MGI Ref ID J:12958]
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SILVERS WK. 1958. An experimental approach to action of genes at the agouti locus in the mouse. III. Transplants of newborn Aw-, A-and at-skin to Ay-, Aw-, A-and aa hosts. J Exp Zool 137(1):189-96. [PubMed: 13563791] [MGI Ref ID J:13013]
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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
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.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.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3175.00 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 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 11 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).
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $4127.50 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 11 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).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control 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.Ordering Information
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JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
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